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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
POLG	5428	broad.mit.edu	37	15	89871755	89871755	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:89871755C>A	uc002bns.4	-	5	1464	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	POLG_uc002bnr.4_Missense_Mutation_p.Q394H	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	394					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGCACAGTACTGCATCAGGT	0.617000								DNA polymerases (catalytic subunits)						34			35		7.16026e-08	7.269e-08	1	1	0
RBM45	129831	broad.mit.edu	37	2	178977543	178977544	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:178977543_178977544CC>TT	uc002ulv.3	+	0	362_363	c.270_271CC>TT	c.(268-273)tgcctc>tgTTtc	p.L91F		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	91	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			ATGGCCAGTGCCTCGGCCCCAA	0.653000														56			22		0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591206	125591206	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:125591206G>A	uc010inw.3	-	3	4264	c.3226C>T	c.(3226-3228)Caa>Taa	p.Q1076*	ANKRD50_uc011cgo.2_Nonsense_Mutation_p.Q897*	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1076										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CGTCCAAATTGATCAGCATGG	0.418000														55			89		0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44284865	44284865	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:44284865C>T	uc002oxl.3	-	0	545	c.149G>A	c.(148-150)gGg>gAg	p.G50E		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	50					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CGAGCACCCCCCGAACCACAG	0.652000														44			43		0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129120711	129120711	+	Silent	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:129120711T>C	uc003iga.3	+	15	2252	c.2121T>C	c.(2119-2121)ttT>ttC	p.F707F	LARP1B_uc003igc.3_Silent_p.F126F|LARP1B_uc010ioa.2_Non-coding_Transcript|LARP1B_uc003ige.3_Non-coding_Transcript|LARP1B_uc003igd.3_Non-coding_Transcript|LARP1B_uc003igf.3_5'UTR	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	707							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAAATGGCTTTACCCAACAAG	0.368000														60			9		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70998644	70998644	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:70998644C>T	uc002ezr.3	-	36	5923	c.5772G>A	c.(5770-5772)ctG>ctA	p.L1924L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1925										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)				TCTCCTGTGCCAGATTCTCCA	0.498000														24			5		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432252	140432252	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:140432252G>A	uc003lik.1	+	0	1274	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	399	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACATTTGGGAATTCTTACT	0.473000														102			40		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414490	138414490	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:138414490G>A	uc002tva.1	+	21	4140	c.4140G>A	c.(4138-4140)gaG>gaA	p.E1380E	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											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)		AGTCTTTTGAGAACCAAGACA	0.443000														107			96		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100364799	100364799	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:100364799C>T	uc003uwj.3	+	24	4944	c.4779C>T	c.(4777-4779)atC>atT	p.I1593I	ZAN_uc003uwk.3_Silent_p.I1593I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.I170I	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1593	VWFD 2.				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)			GCGGGGGGATCCTGGAGGTCT	0.577000														29			33		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999379	27999379	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:27999379C>T	uc004dbx.1	-	0	188	c.73G>A	c.(73-75)Gag>Aag	p.E25K		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	25										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCAGACTGCTCCTCTGGGCTG	0.567000														6			42		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25806268	25806268	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:25806268G>A	uc003gru.4	-	9	1823	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	SEL1L3_uc003grv.3_5'UTR	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	557						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GAAAGGGGACGATAGAGCTAA	0.433000														23			34		0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102256031	102256031	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:102256031G>A	uc001krc.1	-	17	2396	c.2294C>T	c.(2293-2295)cCc>cTc	p.P765L	SEC31B_uc010qpo.1_Missense_Mutation_p.P764L|SEC31B_uc001krd.1_Missense_Mutation_p.P302L|SEC31B_uc001krf.1_Missense_Mutation_p.P302L|SEC31B_uc001kre.1_Missense_Mutation_p.P302L|SEC31B_uc001krg.1_Missense_Mutation_p.P334L	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	765					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACAGTCCCTGGGTAGAAAGCT	0.552000														30			16		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189604281	189604281	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:189604281A>G	uc003fry.2	+	10	1537	c.1448A>G	c.(1447-1449)aAc>aGc	p.N483S	TP63_uc003frz.2_Missense_Mutation_p.N483S|TP63_uc010hzc.1_Missense_Mutation_p.N483S|TP63_uc003fsc.2_Missense_Mutation_p.N389S|TP63_uc003fsd.2_Missense_Mutation_p.N389S|TP63_uc021xir.1_Missense_Mutation_p.N389S|TP63_uc010hzd.1_Missense_Mutation_p.N304S	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	483					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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|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)		CAGCTTATCAACCCTCAGCAG	0.498000										HNSCC(45;0.13)				53			30		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725536	55725536	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:55725536C>T	uc010spj.2	+	0	52	c.52C>T	c.(52-54)Cct>Tct	p.P18S		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCTGATGATCCTGACCTTCA	0.408000														62			49		0	0	1	0	0
SSX8	280659	broad.mit.edu	37	X	52661944	52661944	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:52661944C>T	uc011mob.1	+	7		c.856_splice	c.e7+1							Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		ATGAGTAACTCCGTAAGTGAA	0.478000														37			131		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84117513	84117513	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:84117513G>A	uc003pjy.3	-	1	451	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ME1_uc011dzb.2_Intron|ME1_uc011dzc.2_Intron	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	62					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCAGATGCTCGAAATTTTTTA	0.383000														93			22		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62657341	62657342	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:62657341_62657342CC>TT	uc002yho.3	+	14	2126_2127	c.1958_1959CC>TT	c.(1957-1959)tcc>tTT	p.S653F	PRPF6_uc002yhp.3_Intron	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	653					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					AAGCTGGAGTCCGAGAATGATG	0.663000														151			106		0	0	1	0	0
KLRF1	51348	broad.mit.edu	37	12	9997104	9997104	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:9997104C>T	uc021qux.1	+	5	742	c.678C>T	c.(676-678)ttC>ttT	p.F226F	KLRF1_uc001qwm.3_Non-coding_Transcript|KLRF1_uc009zgy.3_Non-coding_Transcript|KLRF1_uc009zgz.3_3'UTR|KLRF1_uc009zha.3_Non-coding_Transcript|KLRF1_uc009zgw.3_Silent_p.F176F|KLRF1_uc009zgx.3_Non-coding_Transcript	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily F, member 1 (KLRF1), mRNA.	226	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GCAGTGTTTTCAAATGGATTT	0.353000														24			13		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54911716	54911716	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:54911716C>T	uc001sgc.4	+	12	1411	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Silent_p.I394I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	444					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCAGTGACATCATTCAGGTAT	0.403000														75			23		0	0	1	0	0
GRASP	160622	broad.mit.edu	37	12	52408955	52408956	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:52408955_52408956CC>TT	uc001rzo.1	+	7	1216_1217	c.1160_1161CC>TT	c.(1159-1161)tcc>tTT	p.S387F	GRASP_uc001rzp.1_Missense_Mutation_p.S244F	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	Homo sapiens GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein (GRASP), mRNA.	387						cell junction|perinuclear region of cytoplasm|postsynaptic membrane		p.S387F(2)		central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTCAACCGCTCCCTGGAGGAGG	0.644000														5			4		0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52447746	52447746	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:52447746C>T	uc002pxz.2	+	5	1074	c.610C>T	c.(610-612)Cat>Tat	p.H204Y	ZNF613_uc002pya.2_Missense_Mutation_p.H168Y	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGATAAACCCCATGTATGCAC	0.408000														264			60		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822055	43822055	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:43822055G>A	uc010skx.2	-	25	3934	c.3934C>T	c.(3934-3936)Cca>Tca	p.P1312S	ADAMTS20_uc001rno.1_Missense_Mutation_p.P430S|ADAMTS20_uc001rnp.1_Missense_Mutation_p.P466S	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1312	TSP type-1 9.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GATCCCCATGGTCCGGTTCTC	0.353000														40			49		0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176289705	176289705	+	Missense_Mutation	SNP	G	A	A	rs145793659		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:176289705G>A	uc003mey.3	+	1	343	c.151G>A	c.(151-153)Gag>Aag	p.E51K	UNC5A_uc003mex.1_Missense_Mutation_p.E51K|UNC5A_uc010jkg.1_5'UTR	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	51	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGGAGCCCGAGGATGTGTA	0.647000														63			32		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545975	234545975	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:234545975G>A	uc002vur.3	+	0	853	c.807G>A	c.(805-807)atG>atA	p.M269I	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.M269I	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	272					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGCCCAACATGATCTTCATTG	0.428000														308			269		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6045617	6045617	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:6045617G>A	uc003spl.3	-	1	156	c.69C>T	c.(67-69)gtC>gtT	p.V23V	PMS2_uc003spj.3_5'Flank|PMS2_uc003spk.3_5'UTR|PMS2_uc011jwl.2_Intron|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Silent_p.V23V|PMS2_uc010ktf.2_Silent_p.V23V	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	23					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AAATCTGATGGACTGACTTCC	0.413000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					239			325		0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30625894	30625894	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:30625894G>A	uc001iva.4	-	3	681	c.618C>T	c.(616-618)ctC>ctT	p.L206L	MTPAP_uc001ivb.4_Silent_p.L336L	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	206					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGAGATATCGGAGCTTAGTGT	0.448000														69			41		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205042351	205042351	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:205042351C>T	uc001hbr.3	+	21	3269	c.3000C>T	c.(2998-3000)atC>atT	p.I1000I	CNTN2_uc001hbs.3_Silent_p.I788I	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	1000	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGTCCACATCGTGAGGAATG	0.567000														81			24		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73487204	73487204	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:73487204C>T	uc010wsa.2	+	10	1425	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	KIAA0195_uc002jnz.4_Silent_p.S401S|KIAA0195_uc010wsb.2_Silent_p.S53S	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	401					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCACAGTTCCAGCCTGCTGC	0.657000														12			33		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215756	123215756	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:123215756G>A	uc004bkf.3	-	20	2952	c.2771C>T	c.(2770-2772)tCc>tTc	p.S924F	CDK5RAP2_uc004bke.3_Missense_Mutation_p.S209F|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.S924F|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.S189F|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.S189F|CDK5RAP2_uc011lya.2_Missense_Mutation_p.S189F|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.3_Missense_Mutation_p.S691F	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	924					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ACCAGGGAGGGAAAGGAGGGC	0.463000														91			22		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173782551	173782552	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:173782551_173782552GG>AA	uc002uhv.4	+	4	653_654	c.466_467GG>AA	c.(466-468)gga>AAa	p.G156K	RAPGEF4_uc002uhu.2_Missense_Mutation_p.G156K|RAPGEF4_uc002uhw.4_Missense_Mutation_p.G12K|RAPGEF4_uc010zec.1_Missense_Mutation_p.G3K|RAPGEF4_uc010zed.1_Missense_Mutation_p.G3K|RAPGEF4_uc010zee.1_Missense_Mutation_p.G3K|RAPGEF4_uc010fqo.2_Missense_Mutation_p.G3K	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	156					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GTATATGGCAGGACTTCTGGCT	0.351000														115			95		0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113661349	113661349	+	RNA	SNP	A	G	G	rs1713675	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:113661349A>G	uc001pof.1	+	0		c.1397A>G								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		GGGTATAGATAACCTGGAAAC	0.478000														105			5		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69358905	69358905	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:69358905C>T	uc001xkl.3	-	9	1261	c.951G>A	c.(949-951)cgG>cgA	p.R317R	ACTN1_uc010ttb.2_Silent_p.R252R|ACTN1_uc001xkm.3_Silent_p.R317R|ACTN1_uc001xkn.3_Silent_p.R317R|ACTN1_uc001xko.1_Silent_p.R252R|ACTN1_uc010ttd.1_Silent_p.R296R	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	317	Interaction with DDN.			R -> L (in Ref. 8; CAA38970).	focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCCGGTAGTCCCGGAAGTCCT	0.622000														54			11		0	0	1	0	0
CCNA2	890	broad.mit.edu	37	4	122741864	122741864	+	Silent	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:122741864A>G	uc003iec.4	-	3	932	c.627T>C	c.(625-627)agT>agC	p.S209S		NM_001237	NP_001228	P20248	CCNA2_HUMAN	Homo sapiens cyclin A2 (CCNA2), mRNA.	209					Ras protein signal transduction|cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TAGCTCTCATACTGTTAGTGA	0.353000														58			81		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81636269	81636269	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:81636269C>T	uc021ssk.1	-	13	1636	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	TMC3_uc021ssj.1_Missense_Mutation_p.E546K|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.E546K	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	546						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AACTTGCTCTCCAGATCCCAA	0.453000														24			8		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42530776	42530776	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:42530776C>T	uc010dni.3	+	3	1767	c.1471C>T	c.(1471-1473)Cca>Tca	p.P491S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	491						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAAAGTTATCCCAGGAGGTGT	0.502000									Schinzel-Giedion syndrome					81			56		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237666761	237666761	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:237666761C>G	uc001hyl.1	+	21	2689	c.2569C>G	c.(2569-2571)Ctg>Gtg	p.L857V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	857	4 X approximate repeats.				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	p.L855V(1)		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)			CACAGTTTCCCTGACGCAAGC	0.507000														39			53		0	0	1	0	0
LOC341056	341056	broad.mit.edu	37	11	122888570	122888570	+	RNA	SNP	G	T	T	rs7933723	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:122888570G>T	uc010rzt.2	+	0		c.297G>T								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		ATCTCCAGAAGAACCCGGAGC	0.502000														75			5		1.024e-07	1.03834e-07	1	1	0
PACS2	23241	broad.mit.edu	37	14	105843125	105843125	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:105843125C>T	uc001yqu.3	+	8	1326	c.822C>T	c.(820-822)gaC>gaT	p.D274D	PACS2_uc001yqs.2_Silent_p.D199D|PACS2_uc001yqt.3_Silent_p.D274D|PACS2_uc001yqv.3_Silent_p.D274D	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	274					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CGGAGCAGGACCCTGCGGAGC	0.677000														28			9		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207112696	207112696	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:207112696C>T	uc001hez.3	-	2	340	c.156G>A	c.(154-156)cgG>cgA	p.R52R	PIGR_uc009xbz.3_Silent_p.R52R	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	52	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACCAGTACTTCCGGGTGTGCC	0.567000														67			16		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67673641	67673641	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:67673641C>T	uc002lkp.2	-	46	6569	c.6501G>A	c.(6499-6501)tgG>tgA	p.W2167*	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Nonsense_Mutation_p.W1255*|RTTN_uc002lkn.2_Nonsense_Mutation_p.W157*|RTTN_uc010dqp.2_Nonsense_Mutation_p.W419*	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	2167							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAATCAGAGCCCAAAGGGCAG	0.378000														56			36		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141468	114141468	+	Silent	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:114141468A>G	uc004epu.1	+	5	1595	c.867A>G	c.(865-867)agA>agG	p.R289R	HTR2C_uc010nqc.1_Silent_p.R289R|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	289					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.R288Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CACGCCGAAGAAAGAAGAAGG	0.483000														121			7		0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:12187394T>C	uc002mtb.2	+	3	1602	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_uc010dym.1_Missense_Mutation_p.F330L	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F487L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448000														70			4		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436601	248436601	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:248436601G>A	uc010pzi.2	-	0	516	c.516C>T	c.(514-516)atC>atT	p.I172I		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E171*(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	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)			AGAAGTGATCGATCTCGTGTG	0.552000														49			5		0	0	1	0	0
IL20	50604	broad.mit.edu	37	1	207039876	207039876	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:207039876G>A	uc001her.3	+	2	317	c.273G>A	c.(271-273)ctG>ctA	p.L91L	IL20_uc009xby.3_Silent_p.L91L	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	Homo sapiens interleukin 20 (IL20), mRNA.	91					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	p.Y90*(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GACTCTATCTGGACAGGGTAT	0.502000														248			433		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447157	226447157	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:226447157G>A	uc002voe.2	+	3	1199	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.A112T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	342	Pro-rich.																ATTTCCCCCCGCCCCCGTGCA	0.632000														21			11		0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139747410	139747410	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:139747410G>A	uc003lfm.2	+	15	2388	c.2353G>A	c.(2353-2355)Gct>Act	p.A785T	SLC4A9_uc003lfj.2_Missense_Mutation_p.A761T|SLC4A9_uc011czg.1_Missense_Mutation_p.A698T|SLC4A9_uc003lfl.2_Missense_Mutation_p.A761T|SLC4A9_uc003lfk.2_Missense_Mutation_p.A747T	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	785	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTCCCTGGCTCACATGGA	0.582000														13			12		0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82924368	82924368	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:82924368G>A	uc003pjl.1	-	11	2307	c.1780C>T	c.(1780-1782)Ctt>Ttt	p.L594F	IBTK_uc011dyv.1_Missense_Mutation_p.L594F|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Missense_Mutation_p.L288F|IBTK_uc003pjm.2_Missense_Mutation_p.L594F	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	594	BTB 1.				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)		CCATCTGAAAGAAACAATTTC	0.368000														41			44		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	31973451	31973451	+	RNA	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:31973451G>A	uc002ect.3	+	0		c.43G>A								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H186.																		GGTCCAGCCTGGGGGGTCCCT	0.582000														86			20		0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71068893	71068893	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:71068893G>A	uc003hfc.3	+	9	848	c.831G>A	c.(829-831)agG>agA	p.R277R		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	277					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						ACAGCCTAAGGGAACCATAAG	0.333000														72			15		0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89587524	89587524	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:89587524C>T	uc001dmz.1	-	1	397	c.126G>A	c.(124-126)gcG>gcA	p.A42A	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	42					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GGCCCACAATCGCCACCACCA	0.517000														78			143		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7521555	7521555	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:7521555G>A	uc010sge.2	-	15	4102	c.4076C>T	c.(4075-4077)tCg>tTg	p.S1359L	CD163L1_uc001qsy.3_Missense_Mutation_p.S1349L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1349				H -> R (in Ref. 1; AAF91396 and 2; AAQ89215).		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						TGATTTCAGCGACTGTCCTga	0.443000														50			19		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23019338	23019338	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:23019338C>T	uc004daj.3	+	0	1261	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	388	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AATTTGAACCCCAGATAAGGA	0.403000														28			149		0	0	1	0	0
EIF5	1983	broad.mit.edu	37	14	103803508	103803508	+	Missense_Mutation	SNP	G	A	A	rs137964558		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:103803508G>A	uc001ymt.3	+	4	878	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	EIF5_uc001ymq.3_Missense_Mutation_p.R128Q|EIF5_uc001ymr.3_Missense_Mutation_p.R128Q|EIF5_uc001ymu.3_Missense_Mutation_p.R128Q|SNORA28_uc001ymv.1_5'Flank	NM_183004	NP_892116	P55010	IF5_HUMAN	Homo sapiens eukaryotic translation initiation factor 5 (EIF5), transcript variant 2, mRNA.	128					RNA metabolic process|regulation of translational initiation	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TGTGGCTATCGAGGCATGCTT	0.363000														69			21		0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68466514	68466514	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:68466514C>T	uc003dnd.3	+	2	419	c.203C>T	c.(202-204)tCc>tTc	p.S68F	FAM19A1_uc003dne.3_Missense_Mutation_p.S68F|FAM19A1_uc003dng.3_Missense_Mutation_p.S68F	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	68						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GTAAAGTGTTCCTGTCTACCT	0.478000														58			40		0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13269302	13269302	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:13269302G>A	uc010gce.1	+	3	765	c.759G>A	c.(757-759)tcG>tcA	p.S253S	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	253	TSP type-1.					extracellular region		p.C248fs*22(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CAACAGAATCGAGGACCTGTG	0.517000														51			27		0	0	1	0	0
HPGDS	27306	broad.mit.edu	37	4	95229793	95229793	+	Missense_Mutation	SNP	C	T	T	rs118137678	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:95229793C>T	uc003hte.1	-	3	419	c.328G>A	c.(328-330)Gat>Aat	p.D110N		NM_014485	NP_055300	O60760	HPGDS_HUMAN	Homo sapiens hematopoietic prostaglandin D synthase (HPGDS), mRNA.	110	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	ACTTTCACATCTTGCTTTTTC	0.368000														137			31		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95944843	95944843	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:95944843G>A	uc002suk.3	+	9	1358	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	PROM2_uc002suh.2_Missense_Mutation_p.E409K|PROM2_uc002sui.3_Missense_Mutation_p.E409K|PROM2_uc002suj.3_Missense_Mutation_p.E63K|PROM2_uc002sul.3_5'UTR|PROM2_uc002sum.3_5'Flank	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	409						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAGGTGGAGGAGAGCAGCCG	0.697000														16			10		0	0	1	0	0
SDHC	6391	broad.mit.edu	37	1	161332139	161332140	+	Silent	DNP	CC	TT	TT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:161332139_161332140CC>TT	uc001gag.3	+	5	456_457	c.426_427CC>TT	c.(424-429)ggcctg>ggTTtg	p.142_143GL>GL	SDHC_uc001gah.3_Silent_p.108_109GL>GL|SDHC_uc001gai.3_Missense_Mutation_p.P88F|SDHC_uc001gaj.3_Silent_p.89_90GL>GL|SDHC_uc001gak.3_Missense_Mutation_p.P54F	NM_003001	NP_002992	Q99643	C560_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	142					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TAGGAAAAGGCCTGAAGATTCC	0.446000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome					21			17		0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003875	50003875	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:50003875A>G	uc010ria.2	-	0	197	c.163T>C	c.(163-165)Tcc>Ccc	p.S55P		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TACATGGGGGAGCTCAGAGCC	0.423000														12			34		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3436094	3436094	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:3436094C>T	uc002fvr.2	-	7	1244	c.922G>A	c.(922-924)Gag>Aag	p.E308K	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.E292K|TRPV3_uc010vri.1_Missense_Mutation_p.E263K|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.E308K|TRPV3_uc010vrj.1_Missense_Mutation_p.E292K|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.E292K|TRPV3_uc002fvu.3_Missense_Mutation_p.E308K|TRPV3_uc010vrn.1_5'Flank	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	308						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TTGAAGTCCTCGGCCACGGTC	0.582000														12			38		0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89735060	89735060	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:89735060C>T	uc001dnc.3	-	2	716	c.179G>A	c.(178-180)gGg>gAg	p.G60E	GBP5_uc001dnd.3_Missense_Mutation_p.G60E|GBP5_uc001dne.1_Missense_Mutation_p.G60E	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	60						plasma membrane	GTP binding|GTPase activity	p.G60V(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTTGTTCTTCCCAGCCAGCTT	0.512000														158			57		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503275	140503275	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:140503275G>A	uc003lip.1	+	0	1695	c.1695G>A	c.(1693-1695)caG>caA	p.Q565Q		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	565					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCGCTGCAGAATGGCTCCG	0.701000														32			54		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71218810	71218810	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:71218810C>T	uc002ezr.3	-	2	370	c.219G>A	c.(217-219)caG>caA	p.Q73Q	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Silent_p.Q73Q|HYDIN_uc010vmc.2_Silent_p.Q90Q|HYDIN_uc010vmd.2_Silent_p.Q100Q|HYDIN_uc002ezw.4_Silent_p.Q90Q	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	73										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)				GTTCGATGATCTGTGGTCGGC	0.458000														88			34		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10223803	10223803	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:10223803G>A	uc002gmk.1	-	24	3212	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F	MYH13_uc010vve.1_Intron	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1041					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						CTGCTCTAAGGAACCCTCAAG	0.512000														3			6		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74588151	74588151	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:74588151C>T	uc002axo.3	+	10	1546	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P	CCDC33_uc002axp.3_Silent_p.P206P	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	587							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTTGGACCCCAAGATCCTGG	0.512000														35			38		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921769	24921769	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:24921769T>C	uc001ywo.3	+	0	1229	c.755T>C	c.(754-756)cTt>cCt	p.L252P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	252					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCCCGGCATCTTGGAAAGCCT	0.627000														27			28		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3240315	3240315	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:3240315C>T	uc021xkv.1	+	64	9178	c.9033C>T	c.(9031-9033)ttC>ttT	p.F3011F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	3011					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|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)		ACCCCCAGTTCATGGCCACCG	0.557000														27			38		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63520079	63520079	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:63520079C>G	uc001nxq.3	+	4	3026	c.2839C>G	c.(2839-2841)Cgt>Ggt	p.R947G	RTN3_uc001nxp.3_Missense_Mutation_p.R151G|RTN3_uc009yov.3_Missense_Mutation_p.R835G|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Missense_Mutation_p.R170G|RTN3_uc001nxn.3_Missense_Mutation_p.R928G|RTN3_uc001nxo.3_Missense_Mutation_p.R151G	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	947	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ACTCATTATTCGTCTCTTTCT	0.438000														50			118		0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124751925	124751925	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:124751925G>A	uc011lyl.2	-	3	1276	c.1088C>T	c.(1087-1089)aCc>aTc	p.T363I	TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc011lym.1_Missense_Mutation_p.T40I|TTLL11_uc004blt.1_Missense_Mutation_p.T363I|TTLL11_uc004blu.1_3'UTR	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	363	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.G362G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GCTCTGGAGGGTCCCTGCCAG	0.517000														63			73		0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72691188	72691188	+	Silent	SNP	C	T	T	rs142190891	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:72691188C>T	uc002auq.3	+	1	276	c.276C>T	c.(274-276)taC>taT	p.Y92Y	TMEM202_uc002aur.3_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	92						integral to membrane		p.L91F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTGAGCTCTACGCAGGACTCT	0.537000														54			50		0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101652558	101652558	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:101652558G>A	uc010fiv.3	-	8	1611	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	TBC1D8_uc010yvw.2_Missense_Mutation_p.R509C|TBC1D8_uc002tau.4_Missense_Mutation_p.R251C	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	494					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TTCTCTGTGCGAAACATACAC	0.468000														141			61		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409786	79409786	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:79409786C>T	uc002kaf.2	+	3	1225	c.1225C>T	c.(1225-1227)Ctc>Ttc	p.L409F	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	471							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CCTCGACTATCTCAGCAGCGC	0.652000														14			26		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12433880	12433880	+	Silent	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:12433880A>G	uc001atv.3	+	54	11025	c.10884A>G	c.(10882-10884)tcA>tcG	p.S3628S	VPS13D_uc001atw.3_Silent_p.S3603S|VPS13D_uc001atx.3_Silent_p.S2815S|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3627					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGGATGTCTCACCCAAGACAC	0.423000														22			31		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34359456	34359456	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:34359456C>T	uc021uiv.1	+	28	4929	c.4832C>T	c.(4831-4833)gCc>gTc	p.A1611V	FHOD3_uc002kzs.1_Missense_Mutation_p.A1428V|FHOD3_uc002kzt.1_Missense_Mutation_p.A1411V|FHOD3_uc010dmz.1_Missense_Mutation_p.A1143V|FHOD3_uc010dnb.1_3'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1411					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAAGCCAGAGCCCTGGGCTTG	0.562000														31			23		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100179193	100179193	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:100179193G>A	uc001pga.3	+	20	3227	c.2723G>A	c.(2722-2724)gGa>gAa	p.G908E	CNTN5_uc001pfz.3_Missense_Mutation_p.G908E|CNTN5_uc021qpb.1_Missense_Mutation_p.G908E|CNTN5_uc021qpc.1_Missense_Mutation_p.G834E|CNTN5_uc010ruk.2_Missense_Mutation_p.G179E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	908	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGACCACAGGGATTTGAGGTA	0.423000														10			28		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583745	82583745	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:82583745G>A	uc003uhx.2	-	4	6813	c.6524C>T	c.(6523-6525)tCt>tTt	p.S2175F	PCLO_uc003uhv.2_Missense_Mutation_p.S2175F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2106					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						GGGTGGGACAGATGTAGCACT	0.438000														50			76		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108264237	108264237	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:108264237C>T	uc003ymn.3	-	8	1811	c.1343G>A	c.(1342-1344)tGg>tAg	p.W448*	ANGPT1_uc011lhv.2_Nonsense_Mutation_p.W248*|ANGPT1_uc003ymo.3_Nonsense_Mutation_p.W447*	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	448	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGCATCAAACCACCATCCTGA	0.368000														46			47		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62672651	62672651	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:62672651G>A	uc021ooc.1	+	3	786	c.351G>A	c.(349-351)ggG>ggA	p.G117G	L1TD1_uc001dae.4_Silent_p.G117G	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	117								p.G117W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ggatggtagggaaaatagaag	0.328000														184			39		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47880080	47880080	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:47880080G>A	uc003tny.2	-	34	5565	c.5531C>T	c.(5530-5532)tCc>tTc	p.S1844F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1844	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTGTGTCTGGAATTCCTTTC	0.408000														51			29		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182403895	182403895	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:182403895C>T	uc002unx.3	-	12	1641	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.E488K|CERKL_uc010zfm.2_Missense_Mutation_p.E470K|CERKL_uc002unz.3_Missense_Mutation_p.E236K|CERKL_uc002uoa.3_Missense_Mutation_p.E419K|CERKL_uc002uob.3_Missense_Mutation_p.E236K|CERKL_uc002uoc.3_Missense_Mutation_p.E375K|CERKL_uc021vth.1_Missense_Mutation_p.E283K|CERKL_uc021vti.1_Missense_Mutation_p.E236K|CERKL_uc021vtj.1_Missense_Mutation_p.E191K|CERKL_uc021vtk.1_Missense_Mutation_p.E236K|CERKL_uc021vtl.1_Missense_Mutation_p.E191K|CERKL_uc021vtm.1_Missense_Mutation_p.E283K|CERKL_uc002uod.2_Missense_Mutation_p.E283K|CERKL_uc002unw.3_Missense_Mutation_p.E84K	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	514			E -> G (in dbSNP:rs35955809).		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GAAGCAGTTTCATCCTCCTCC	0.373000														122			67		0	0	1	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394567	39394567	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:39394567C>T	uc002hwh.4	+	0	298	c.264C>T	c.(262-264)tcC>tcT	p.S88S		NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	Homo sapiens keratin associated protein 9-8 (KRTAP9-8), mRNA.	88	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGTGGGTCCAGCTGTGGTC	0.617000														151			58		0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20943261	20943261	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:20943261C>T	uc001vxo.4	+	4	648	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	PNP_uc010ahn.3_3'UTR|PNP_uc021rns.1_Missense_Mutation_p.R39W	NM_000270	NP_000261	P00491	PNPH_HUMAN	Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.	168					NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	TGCCTACGACCGGACTATGAG	0.502000														31			33		0	0	1	0	0
FXYD7	53822	broad.mit.edu	37	19	35639686	35639686	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:35639686C>T	uc010xsp.1	+	1	205	c.63C>T	c.(61-63)atC>atT	p.I21I	FXYD7_uc002nye.1_Intron			P58549	FXYD7_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 7 (FXYD7), mRNA.	0						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCTCACAGATCACTCCGGACA	0.552000														33			21		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833968	24833968	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:24833968G>A	uc001iru.4	+	19	5673	c.5270G>A	c.(5269-5271)aGa>aAa	p.R1757K	KIAA1217_uc001irs.3_Missense_Mutation_p.R1078K|KIAA1217_uc001irt.4_Missense_Mutation_p.R1123K|KIAA1217_uc010qcy.2_Missense_Mutation_p.R1188K|KIAA1217_uc010qcz.2_Missense_Mutation_p.R1163K|KIAA1217_uc001irw.3_Missense_Mutation_p.R907K|KIAA1217_uc001irz.3_Missense_Mutation_p.R841K|KIAA1217_uc001irx.3_Missense_Mutation_p.R1440K|KIAA1217_uc001iry.3_Missense_Mutation_p.R881K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1757					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCCAAGAACAGACCCGGAACC	0.582000														60			28		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686526	125686526	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:125686526G>C	uc022cds.1	-	0	66	c.66C>G	c.(64-66)agC>agG	p.S22R	DCAF12L1_uc004eul.3_Missense_Mutation_p.S22R	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	22										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCGACGGCGAGCTCTCGGCGT	0.706000														3			29		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113775248	113775248	+	Silent	SNP	C	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:113775248C>G	uc003eax.3	-	0	213	c.66G>C	c.(64-66)cgG>cgC	p.R22R	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Missense_Mutation_p.V61L|KIAA1407_uc011bip.1_Silent_p.R22R|QTRTD1_uc003eay.3_5'Flank|QTRTD1_uc003eaz.3_5'Flank|QTRTD1_uc011biq.2_5'Flank|QTRTD1_uc011bir.2_5'Flank	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	22										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCCTTGTGAACCGTTTCCAGC	0.602000														79			48		0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62291249	62291249	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:62291249G>A	uc002jed.3	-	1	480	c.329C>T	c.(328-330)tCc>tTc	p.S110F	TEX2_uc002jec.3_Missense_Mutation_p.S110F|TEX2_uc002jee.3_Missense_Mutation_p.S110F	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	110					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGTGTTCTTGGAGACGGGCAA	0.607000														190			105		0	0	1	0	0
TMX3	54495	broad.mit.edu	37	18	66364468	66364468	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:66364468G>A	uc002lkf.3	-	7	700	c.565C>T	c.(565-567)Cct>Tct	p.P189S	TMX3_uc010xez.2_Missense_Mutation_p.P48S|TMX3_uc010xfa.1_Missense_Mutation_p.P162S|TMX3_uc002lkg.4_Missense_Mutation_p.P189S	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	189					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ATTACCTCAGGAACCACTTCT	0.249000														16			11		0	0	1	0	0
RPS18	6222	broad.mit.edu	37	6	33240442	33240442	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:33240442G>T	uc003odp.1	+	1	86	c.41G>T	c.(40-42)cGa>cTa	p.R14L	VPS52_uc003odm.1_5'Flank|VPS52_uc003odn.1_5'Flank|VPS52_uc003odo.1_5'Flank|VPS52_uc011dqy.1_5'Flank|VPS52_uc011dqz.1_5'Flank|RPS18_uc010jum.1_Non-coding_Transcript	NM_022551	NP_072045	P62269	RS18_HUMAN	Homo sapiens ribosomal protein S18 (RPS18), mRNA.	14					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CATATTTTGCGAGTACTCAAC	0.428000														99			35		9.04072e-19	9.30851e-19	1	1	0
SYNGR2	9144	broad.mit.edu	37	17	76167055	76167055	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:76167055T>C	uc002jut.3	+	1	284	c.257T>C	c.(256-258)tTg>tCg	p.L86S	SYNGR2_uc002juu.1_Missense_Mutation_p.L86S			O43760	SNG2_HUMAN	Homo sapiens synaptogyrin 2 (SYNGR2), mRNA.	86	MARVEL.					integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GCCTTCTTCTTGGTGGTCGAC	0.587000														118			50		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381466	81381466	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:81381466C>T	uc003uhl.3	-	4	760	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	HGF_uc003uhm.3_Missense_Mutation_p.E194K|HGF_uc003uhn.1_Missense_Mutation_p.E199K|HGF_uc003uho.1_Missense_Mutation_p.E194K|HGF_uc003uhp.3_Missense_Mutation_p.E199K	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	199	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.E199K(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCACAGACTTCGTAGCGTACC	0.468000														76			39		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627553	21627553	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:21627553G>A	uc004czx.2	+	19	2990	c.2510G>A	c.(2509-2511)gGa>gAa	p.G837E	CNKSR2_uc004czw.3_Missense_Mutation_p.G837E|CNKSR2_uc011mjn.2_Missense_Mutation_p.G788E|CNKSR2_uc011mjo.2_Missense_Mutation_p.G807E|CNKSR2_uc004czy.3_Missense_Mutation_p.G429E	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	837					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTGCTAAATGGAAATGGGGGC	0.532000														12			55		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166246237	166246237	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:166246237C>T	uc002udc.3	+	26	6211	c.5921C>T	c.(5920-5922)tCg>tTg	p.S1974L	SCN2A_uc002udd.3_Missense_Mutation_p.S1974L|SCN2A_uc002ude.3_Missense_Mutation_p.S1974L|SCN2A_uc021vry.1_Missense_Mutation_p.S474L	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1974					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1974L(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCTCCACCCTCGTATGATAGT	0.373000														40			47		0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31531168	31531168	+	Splice_Site	SNP	T	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr13:31531168T>A	uc001uti.3	+	4	488	c.469_splice	c.e4+2	p.A157_splice		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.	157																	GATCAAAAGGTAAACACTTTT	0.423000														22			27		0	0	1	0	0
AK302238	0	broad.mit.edu	37	15	29091096	29091096	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:29091096C>T	uc010uar.1	-	4	337	c.208_splice	c.e4-1	p.E70_splice	LOC646278_uc021sgt.1_Intron					SubName: Full=cDNA FLJ59069, weakly similar to Golgin subfamily A member 6;																		GCCTTATTTTCCTATAGAAAA	0.527000														13			8		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112130534	112130534	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:112130534C>T	uc009zvx.3	+	1	221	c.21C>T	c.(19-21)ttC>ttT	p.F7F	ACAD10_uc009zvw.2_Silent_p.F7F|ACAD10_uc001tso.4_Silent_p.F7F|ACAD10_uc001tsp.3_Silent_p.F7F|ACAD10_uc001tsq.3_Silent_p.F7F	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	7							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGAGCTGTTTCCAGTCCCCCC	0.617000														45			16		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538228	4538228	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:4538228G>A	uc002mau.3	-	1	779	c.768C>T	c.(766-768)ttC>ttT	p.F256F	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	256						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGCCCTGGAAGGCACCGG	0.622000														155			56		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57798079	57798079	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:57798079C>T	uc003hch.3	+	3	3402	c.3055C>T	c.(3055-3057)Cta>Tta	p.L1019L	REST_uc003hci.3_Silent_p.L1019L|REST_uc010ihf.3_Silent_p.L693L	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	1019	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGGAAGTGACCTAAGTGACAA	0.478000														47			11		0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109922646	109922646	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:109922646G>A	uc004eou.4	-	10	1513	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L	CHRDL1_uc004eov.3_Silent_p.L377L|CHRDL1_uc004eow.3_Silent_p.L386L|CHRDL1_uc010nps.3_Silent_p.L387L|CHRDL1_uc011mss.2_Silent_p.L308L	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	380					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGAAGTGCTGGAGAATGCCTA	0.453000														11			46		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166824	140166824	+	Missense_Mutation	SNP	G	A	A	rs143010606		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:140166824G>A	uc003lhb.2	+	0	949	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	PCDHAC2_uc003lha.2_Missense_Mutation_p.E317K|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E317K	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	332	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E317K(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATCCTACGAAATTCAAGT	0.353000														67			71		0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13541976	13541976	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:13541976G>A	uc001imm.2	-	2	391	c.94C>T	c.(94-96)Cta>Tta	p.L32L	BEND7_uc001imo.4_Silent_p.L32L	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	84							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCTTCTTTTAGTTTCTCTCCT	0.502000														60			30		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66903960	66903960	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:66903960G>A	uc002jhq.3	-	17	2539	c.2199C>T	c.(2197-2199)atC>atT	p.I733I	ABCA8_uc002jhp.3_Silent_p.I693I|ABCA8_uc010wqq.2_Silent_p.I733I|ABCA8_uc010wqr.2_Silent_p.I672I|ABCA8_uc002jhr.3_Silent_p.I733I	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	693						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGGCATCAGGGATGTGCTGTT	0.333000														34			43		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63720644	63720644	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:63720644G>A	uc003tsx.3	+	2	354	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E28*(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CTCTCTGGAGGAGTGGCAATG	0.398000														148			50		0	0	1	0	0
FAM41C	284593	broad.mit.edu	37	1	809577	809577	+	RNA	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:809577C>T	uc001abt.4	-	1		c.1016G>A								Homo sapiens family with sequence similarity 41, member C (FAM41C), non-coding RNA.																		CAAGGCCTTCCTCCATTGGTA	0.498000														195			47		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584960	82584960	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:82584960A>T	uc003uhx.2	-	4	5598	c.5309T>A	c.(5308-5310)aTt>aAt	p.I1770N	PCLO_uc003uhv.2_Missense_Mutation_p.I1770N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1701					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						AGAATCTTCAATAGTAGGCAA	0.433000														167			72		0	0	1	0	0
ENSA	2029	broad.mit.edu	37	1	150600038	150600038	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:150600038C>T	uc009wly.3	-	1	240	c.88G>A	c.(88-90)Gag>Aag	p.E30K	ENSA_uc001evd.3_Missense_Mutation_p.E30K|ENSA_uc001eve.3_Missense_Mutation_p.E30K|ENSA_uc001evg.3_Missense_Mutation_p.E30K|ENSA_uc001evh.3_Missense_Mutation_p.E30K|ENSA_uc009wlz.1_Missense_Mutation_p.E30K|ENSA_uc001evi.3_Missense_Mutation_p.E30K|ENSA_uc001evb.3_Missense_Mutation_p.E26K|ENSA_uc001evc.3_Missense_Mutation_p.E26K|ENSA_uc001evf.3_Missense_Mutation_p.E26K	NM_207043	NP_997051	O43768	ENSA_HUMAN	Homo sapiens endosulfine alpha (ENSA), transcript variant 2, mRNA.	30					G2/M transition of mitotic cell cycle|cell division|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding	p.E30K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGCTCTCTCAGGCAGAATA	0.453000														104			33		0	0	1	0	0
STK17A	9263	broad.mit.edu	37	7	43664182	43664182	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:43664182C>T	uc003tih.3	+	6	1137	c.986C>T	c.(985-987)cCt>cTt	p.P329L	C7orf44_uc003tij.3_Intron|C7orf44_uc010kxu.2_Intron	NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	Homo sapiens serine/threonine kinase 17a (STK17A), mRNA.	329					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTCAAGAGCCTTCTTTCAGG	0.423000														95			50		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54707266	54707266	+	Splice_Site	SNP	G	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:54707266G>T	uc021smr.1	+	17	4927	c.4927_splice	c.e17+1	p.E1643_splice	UNC13C_uc021sms.1_Splice_Site_p.E1645_splice|UNC13C_uc002acl.3_Splice_Site_p.V475_splice	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1645	MHD1.				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)		GCATTAGAAGGTAATTATAAA	0.308000														44			4		0.150653	0.150827	1	1	0
GPR149	344758	broad.mit.edu	37	3	154055976	154055976	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:154055976G>A	uc003faa.3	-	3	1808	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	570						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L570F(2)		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)			TAGGTAGAAAGAGATAGGGTT	0.468000														99			84		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371363	126371363	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:126371363G>A	uc003ifj.4	+	8	9192	c.9192G>A	c.(9190-9192)aaG>aaA	p.K3064K	FAT4_uc011cgp.2_Silent_p.K1362K|FAT4_uc003ifi.1_Silent_p.K542K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3064	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D3063H(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAAGGATAAGGGAAACCCTC	0.418000														44			75		0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140201449	140201449	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:140201449G>A	uc004cmp.2	-	21	2780	c.2584C>T	c.(2584-2586)Ccc>Tcc	p.P862S	EXD3_uc010ncf.1_Missense_Mutation_p.P500S	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	862					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GGCTCGCAGGGGCTGGGGGCG	0.652000														9			9		0	0	1	0	0
EEF1E1	9521	broad.mit.edu	37	6	8102830	8102830	+	Splice_Site	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:8102830A>G	uc003mxz.3	-	1	1	c.-73_splice	c.e1-1		TXNDC5_uc021ylg.1_Splice_Site|EEF1E1_uc011dic.2_Splice_Site	NM_004280	NP_004271	O43324	MCA3_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 epsilon 1 (EEF1E1), transcript variant 1, mRNA.						negative regulation of cell proliferation|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of apoptosis|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					CAGAAGTCCCACTCCTGCAAA	0.662000														2			5		0	0	1	0	0
SYNGR2	9144	broad.mit.edu	37	17	76167053	76167053	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:76167053C>T	uc002jut.3	+	1	282	c.255C>T	c.(253-255)ttC>ttT	p.F85F	SYNGR2_uc002juu.1_Silent_p.F85F			O43760	SNG2_HUMAN	Homo sapiens synaptogyrin 2 (SYNGR2), mRNA.	85	MARVEL.					integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			CGGCCTTCTTCTTGGTGGTCG	0.587000														122			54		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184853923	184853923	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:184853923T>C	uc001gra.3	-	4	639	c.445A>G	c.(445-447)Aag>Gag	p.K149E	FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	149					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGTTCTCCTTCTCACTGGAG	0.458000														24			34		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37507988	37507988	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:37507988G>A	uc021ppc.1	+	33	3279	c.3180G>A	c.(3178-3180)ctG>ctA	p.L1060L	ANKRD30A_uc001iza.1_Silent_p.L1060L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1116						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCTAAAACTGGAAATAGCCA	0.308000														61			30		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159275792	159275792	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:159275792C>T	uc001ftq.3	+	4	443	c.346C>T	c.(346-348)Cag>Tag	p.Q116*		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	116	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GCTGCTCCTTCAGGCCTCTGC	0.453000														33			59		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154311712	154311712	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:154311712C>T	uc003lvx.3	-	3	691	c.608G>A	c.(607-609)tGg>tAg	p.W203*	GEMIN5_uc011ddk.1_Nonsense_Mutation_p.W203*	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	203					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGGGGACACCAGGCTATGGA	0.423000														65			65		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87133570	87133570	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:87133570T>C	uc003uiz.2	-	28	4325	c.3832A>G	c.(3832-3834)Aag>Gag	p.K1278E	ABCB1_uc011khc.2_Missense_Mutation_p.K1214E	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1278					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|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)	CACTGGCGCTTTGTTCCAGCC	0.393000														129			58		0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117060293	117060293	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:117060293G>A	uc003vjb.2	-	3	427	c.364C>T	c.(364-366)Cat>Tat	p.H122Y	ASZ1_uc011kno.1_Missense_Mutation_p.H122Y|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	122					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCTGAGCCATGAGCAGAACAT	0.363000														48			51		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189607219	189607219	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:189607219C>T	uc003fry.2	+	11	1687	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F	TP63_uc003frz.2_Missense_Mutation_p.S533F|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Missense_Mutation_p.S439F|TP63_uc003fsd.2_Missense_Mutation_p.S439F|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Missense_Mutation_p.S354F	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	533					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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|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)		TCCATGCCATCCACCTCCCAC	0.607000										HNSCC(45;0.13)				64			20		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234526522	234526522	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:234526522G>T	uc002vup.3	+	0	232	c.169G>T	c.(169-171)Gta>Tta	p.V57L	UGT1A1_uc010zmv.1_Missense_Mutation_p.V57L	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	59					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGAGGTGGTTGTAGTCATGCC	0.522000														121			95		7.79919e-48	8.10706e-48	1	1	0
PER3	8863	broad.mit.edu	37	1	7863106	7863106	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:7863106G>A	uc001aop.3	+	8	1097	c.873_splice	c.e8-1	p.K291_splice	PER3_uc009vmg.1_Splice_Site_p.K291_splice|PER3_uc009vmh.1_Splice_Site_p.K291_splice|PER3_uc001aoo.3_Splice_Site_p.K290_splice|PER3_uc010nzw.2_Splice_Site|PER3_uc001aon.3_Splice_Site_p.K290_splice	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	290	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTATCCCAGAGCAGTGCCT	0.413000														41			92		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126114872	126114872	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:126114872C>T	uc010hsg.1	+	0	88	c.29C>T	c.(28-30)tCc>tTc	p.S10F	BC033989_uc003eit.1_5'Flank|CCDC37_uc003eiu.1_Missense_Mutation_p.S10F	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	10										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACTATAGTCTCCAAGAACATG	0.542000														46			23		0	0	1	0	0
HOXA4	3201	broad.mit.edu	37	7	27169167	27169167	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:27169167C>T	uc003sym.4	-	1	687	c.640G>A	c.(640-642)Gag>Aag	p.E214K	HOXA3_uc003syk.3_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	Homo sapiens homeobox A4 (HOXA4), mRNA.	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGCTTAGGCTCCCCTCCGTTA	0.582000														45			30		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398207	89398207	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:89398207G>A	uc010upo.1	+	11	2765	c.2391G>A	c.(2389-2391)gaG>gaA	p.E797E	ACAN_uc010upp.1_Silent_p.E797E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	797					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)			TCCCCTCAGAGGAGCCATCCC	0.602000														7			3		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149918	153149918	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:153149918G>A	uc011dcy.2	+	12	2270	c.2243G>A	c.(2242-2244)gGa>gAa	p.G748E	GRIA1_uc003lva.4_Missense_Mutation_p.G738E|GRIA1_uc003luy.4_Missense_Mutation_p.G738E|GRIA1_uc003luz.4_Missense_Mutation_p.G643E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.G658E|GRIA1_uc011dcx.2_Missense_Mutation_p.G669E|GRIA1_uc011dcz.2_Missense_Mutation_p.G748E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	738					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGAAGGTGGGAGGTAACTTG	0.507000														51			18		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845899	24845899	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:24845899C>T	uc001wpc.3	+	8	2777	c.2456C>T	c.(2455-2457)tCc>tTc	p.S819F	NFATC4_uc010alr.3_Intron|NFATC4_uc010tok.2_Missense_Mutation_p.S882F|NFATC4_uc010tol.2_Missense_Mutation_p.S882F|NFATC4_uc010too.2_Intron|NFATC4_uc010tom.2_Missense_Mutation_p.S832F|NFATC4_uc010ton.2_Missense_Mutation_p.S832F|NFATC4_uc010toq.2_Intron|NFATC4_uc010alt.3_Missense_Mutation_p.S851F|NFATC4_uc010top.2_Missense_Mutation_p.S851F|NFATC4_uc010tor.2_Intron|NFATC4_uc010tos.2_Missense_Mutation_p.S749F|NFATC4_uc010tot.2_Missense_Mutation_p.S807F|NFATC4_uc010tou.2_Missense_Mutation_p.S749F|NFATC4_uc010tov.2_Intron|NFATC4_uc010tow.2_Intron|NFATC4_uc010alv.3_Missense_Mutation_p.S807F|NFATC4_uc010tox.2_Missense_Mutation_p.S749F|NFATC4_uc001wpd.3_Missense_Mutation_p.S354F|NFATC4_uc010toy.2_Intron|NFATC4_uc010toz.2_Missense_Mutation_p.S354F|NFATC4_uc010tpa.2_Missense_Mutation_p.S107F|NFATC4_uc010tpb.2_Missense_Mutation_p.S107F	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	819	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTTCCTGCATCCCCACCGCTT	0.642000														98			46		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493978	55493978	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:55493978C>T	uc021vbq.1	+	5	1023	c.912C>T	c.(910-912)atC>atT	p.I304I	NLRP2_uc010yfp.2_Silent_p.I281I|NLRP2_uc002qij.3_Silent_p.I304I|NLRP2_uc010esp.3_Silent_p.I282I|NLRP2_uc010esn.3_Silent_p.I280I|NLRP2_uc010eso.3_Silent_p.I301I	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	304	NACHT.			I -> S (in Ref. 4; BAB15293).	apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCGAGGACATCTGCGGGGACT	0.597000														53			17		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265540	10265540	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:10265540C>T	uc002gmk.1	-	4	490	c.400G>A	c.(400-402)Gtg>Atg	p.V134M		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	134	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						GGCTTGTACACCGGCAGCCAC	0.527000														22			75		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8135759	8135759	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:8135759G>A	uc002gkq.4	-	11	2039	c.1980C>T	c.(1978-1980)atC>atT	p.I660I	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	660					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						CCCTCTCTACGATCAACTGAA	0.552000														43			84		0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97361523	97361523	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:97361523G>A	uc010fia.3	+	34	4020	c.4020G>A	c.(4018-4020)aaG>aaA	p.K1340K	FER1L5_uc002sws.4_Silent_p.K58K|FER1L5_uc010fib.1_Non-coding_Transcript|FER1L5_uc010yus.2_Silent_p.K57K	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1340						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						TCGTGGTGAAGGTGGTAGACA	0.622000														10			15		0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15763627	15763627	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:15763627G>A	uc002rce.3	+	18	1803	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K	DDX1_uc010yjq.1_Silent_p.K413K|DDX1_uc021vee.1_Silent_p.K424K	NM_004939	NP_004930	Q92499	DDX1_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 (DDX1), mRNA.	505	Helicase C-terminal.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA/RNA helicase activity|RNA helicase activity|chromatin binding|exonuclease activity|poly(A) RNA binding|protein binding|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AGGAACATAAGATGGATCAAG	0.368000														54			47		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542946	133542946	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:133542946C>T	uc002ttp.3	-	13	1812	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	480							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						GAAGGGTCATCGTCCGCATCA	0.517000														88			42		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3635752	3635752	+	Silent	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:3635752A>G	uc002fwo.4	-	21	2763	c.2664T>C	c.(2662-2664)tcT>tcC	p.S888S		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	888					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAATGTTTGGAGAGGGAGGCT	0.458000														11			28		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523835	95523835	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:95523835G>A	uc003ygo.2	-	12	3039	c.2968C>T	c.(2968-2970)Cat>Tat	p.H990Y	KIAA1429_uc003ygp.3_Missense_Mutation_p.H990Y|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	990					RNA splicing|mRNA processing	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)			ATGTTGACATGGAGCCTCCAA	0.433000														58			55		0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163117267	163117267	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:163117267G>A	uc001gcn.3	-	4	749	c.411C>T	c.(409-411)gaC>gaT	p.D137D	RGS5_uc021pdu.1_Silent_p.D29D|RGS5_uc021pdt.1_Silent_p.D141D|RGS5_uc009wvb.3_Silent_p.D29D	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	137	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TCATTGTGATGTCCTTAGTGA	0.478000														115			4		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41161899	41161899	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:41161899C>T	uc003jmk.2	-	9	1564	c.1354G>A	c.(1354-1356)Gga>Aga	p.G452R	C6_uc003jml.1_Missense_Mutation_p.G452R	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	452	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAAGCTGCTCCATATTCACTC	0.423000														67			29		0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121431465	121431465	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:121431465C>T	uc001tzg.3	+	2	692	c.669C>T	c.(667-669)aaC>aaT	p.N223N	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Silent_p.N223N|HNF1A_uc001tzf.3_Silent_p.N223N|HNF1A_uc010szn.2_Silent_p.N223N|HNF1A_uc021rfa.1_Silent_p.N223N|HNF1A_uc021rfb.1_Silent_p.N95N|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	223					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCAGAAGAACCCTAGCAAGG	0.597000									Hepatic Adenoma, Familial Clustering of					25			14		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150695528	150695528	+	Silent	SNP	C	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:150695528C>G	uc003wif.3	+	5	962	c.666C>G	c.(664-666)ggC>ggG	p.G222G	NOS3_uc011kuy.2_Silent_p.G16G|NOS3_uc011kva.2_Silent_p.G222G|NOS3_uc011kuz.2_Silent_p.G222G|NOS3_uc011kvb.2_Silent_p.G222G	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	222	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCAACCGGGGCAACCTTCGGT	0.622000														13			20		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25004817	25004817	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:25004817C>T	uc001mqs.3	+	8	1017	c.743C>T	c.(742-744)cCa>cTa	p.P248L	LUZP2_uc009yif.3_Missense_Mutation_p.P162L|LUZP2_uc009yig.3_Missense_Mutation_p.P206L	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	248						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCTAAGCTTCCAGATGCAGCG	0.428000														32			81		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486307	179486307	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:179486307C>T	uc021vsy.1	-	193	37765	c.37540G>A	c.(37540-37542)Gga>Aga	p.G12514R	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G6209R|TTN_uc021vta.1_Missense_Mutation_p.G6142R|TTN_uc021vtb.1_Missense_Mutation_p.G6017R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13441	Ig-like 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S12513F(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)			CTCTTCCGTCCTTCAGTCAGT	0.458000														62			26		0	0	1	0	0
RPAP3	79657	broad.mit.edu	37	12	48080605	48080605	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:48080605A>G	uc001rpr.3	-	8	1066	c.950T>C	c.(949-951)cTt>cCt	p.L317P	RPAP3_uc010slk.2_Missense_Mutation_p.L158P|RPAP3_uc001rps.3_Missense_Mutation_p.L317P	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	317							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGCTGGAAGAAGGGCATTAGC	0.368000														57			18		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006368	16006368	+	Silent	SNP	G	A	A	rs139580343	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:16006368G>A	uc002nbs.1	-	2	341	c.291C>T	c.(289-291)ccC>ccT	p.P97P	CYP4F2_uc010xot.1_5'UTR|CYP4F2_uc010xou.1_Intron	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	97					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						AACTGAGGAGGGGGGAGATGG	0.592000														132			47		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52557922	52557923	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:52557922_52557923GG>TA	uc003dej.3	+	66	7505_7506	c.7431_7432GG>TA	c.(7429-7434)gcggca>gcTAca	p.A2478T	STAB1_uc003del.3_Missense_Mutation_p.A390T	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2478					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)		CACCTGTGGCGGCAGGCGTGGG	0.658000														19			17		0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27380539	27380539	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:27380539A>T	uc002hdr.1	+	3	912	c.586A>T	c.(586-588)Aag>Tag	p.K196*		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	196					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CTACCAAGCTAAGAGCTTGGT	0.572000														66			78		0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148512065	148512065	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:148512065G>A	uc003wfd.2	-	13	1791	c.1598C>T	c.(1597-1599)tCg>tTg	p.S533L	EZH2_uc022aov.1_Intron|EZH2_uc011kug.2_Intron|EZH2_uc003wfb.2_Missense_Mutation_p.S538L|EZH2_uc003wfc.2_Missense_Mutation_p.S494L|EZH2_uc011kuh.2_Missense_Mutation_p.S524L	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	533	Cys-rich.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.S538L(1)|p.S494L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACAAGGGCACGAACTGTCACA	0.398000			Mis		DLBCL									23			44		0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17589783	17589783	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:17589783C>T	uc002zly.3	+	12	1805	c.1674C>T	c.(1672-1674)taC>taT	p.Y558Y		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	558					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGGACAACTACCTGCGGAGCC	0.657000														9			6		0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72100349	72100349	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:72100349G>A	uc001jqx.1	-	2	414	c.192C>T	c.(190-192)tcC>tcT	p.S64S	LRRC20_uc001jqy.1_Silent_p.S64S|LRRC20_uc001jqz.1_Intron	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	64										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TGCTGGTGAGGGACTTAAGCT	0.562000														32			19		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158223	139158223	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:139158223G>A	uc003yuy.3	-	14	3690	c.3519C>T	c.(3517-3519)ttC>ttT	p.F1173F	FAM135B_uc003yux.3_Silent_p.F1074F|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.F735F|FAM135B_uc003yvb.3_Missense_Mutation_p.P701S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1173										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)			CAGACATTAGGAAGTCCAGTT	0.438000										HNSCC(54;0.14)				58			7		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80729767	80729767	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:80729767G>A	uc001szd.3	+	37	4426	c.4420G>A	c.(4420-4422)Gat>Aat	p.D1474N		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCCTGTTTATGATTGTAGCCA	0.353000														36			28		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75039016	75039016	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:75039016C>T	uc001dgg.3	-	13	2597	c.2378G>A	c.(2377-2379)gGg>gAg	p.G793E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	793	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						TGCTGCCTCCCCTTTTCCCTG	0.517000														86			127		0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	98893472	98893472	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:98893472G>A	uc003htt.2	-	6	982	c.892C>T	c.(892-894)Cag>Tag	p.Q298*		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	298										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		GCTTCTTTCTGAACCGAGAAG	0.363000														104			24		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15694228	15694228	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:15694228G>A	uc002rcc.1	-	3	270	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	82								p.R82L(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTAACCAAGCGAACCAGTCCA	0.358000														21			19		0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176951758	176951758	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:176951758G>A	uc003mhu.3	-	5	1813	c.1724C>T	c.(1723-1725)cCc>cTc	p.P575L	FAM193B_uc003mhr.3_Missense_Mutation_p.P79L|FAM193B_uc021yiw.1_Missense_Mutation_p.P201L|FAM193B_uc003mht.3_Missense_Mutation_p.P201L|FAM193B_uc003mhv.3_Missense_Mutation_p.P201L|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	251										kidney(1)|large_intestine(3)	4						GACGATACCGGGAGGGGGCCC	0.647000														7			6		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118539256	118539256	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:118539256C>T	uc001ehk.2	-	32	4955	c.4887G>A	c.(4885-4887)aaG>aaA	p.K1629K	SPAG17_uc021osr.1_Silent_p.K139K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1629						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCTGATGATTCTTTTCAAGGT	0.318000														93			33		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71415364	71415364	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:71415364G>A	uc010dfm.3	-	15	2127	c.2127C>T	c.(2125-2127)atC>atT	p.I709I	SDK2_uc010dfn.2_Silent_p.I388I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	709	Fibronectin type-III 2.				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						GCTGCCACTGGATCATGATGG	0.612000														20			7		0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647337	20647337	+	Silent	SNP	C	T	T	rs140649204	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:20647337C>T	uc002rdv.3	+	0	503	c.111C>T	c.(109-111)acC>acT	p.T37T		NM_004040	NP_004031	P62745	RHOB_HUMAN	Homo sapiens ras homolog gene family, member B (RHOB), mRNA.	37					Rho protein signal transduction|angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		ACGTGCCCACCGTCTTCGAGA	0.647000														59			36		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216371	20216371	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:20216371C>A	uc010tkt.2	+	0	785	c.785C>A	c.(784-786)cCt>cAt	p.P262H		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATTTGAGGCCTTTCTGCAGC	0.458000														179			15		1.37285e-15	1.40851e-15	1	1	0
SYT5	6861	broad.mit.edu	37	19	55687458	55687458	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:55687458G>A	uc002qjm.1	-	2	1347	c.287C>T	c.(286-288)cCa>cTa	p.P96L	SYT5_uc002qjp.2_Missense_Mutation_p.P93L|SYT5_uc002qjn.1_Missense_Mutation_p.P96L|SYT5_uc002qjo.1_Missense_Mutation_p.P96L	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	96					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.S97fs*12(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TGGCCCGGATGGTGCTGGCTC	0.577000														74			60		0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193336700	193336700	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:193336700C>T	uc003ftg.3	+	5	887	c.653C>T	c.(652-654)tCt>tTt	p.S218F	OPA1_uc003fth.3_Missense_Mutation_p.S182F|OPA1_uc003fti.3_Missense_Mutation_p.S200F|OPA1_uc003ftj.3_Missense_Mutation_p.S218F|OPA1_uc003ftk.3_Missense_Mutation_p.S164F|OPA1_uc003ftl.3_Missense_Mutation_p.S182F|OPA1_uc003ftm.3_Missense_Mutation_p.S200F|OPA1_uc003ftn.3_Missense_Mutation_p.S164F	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	200					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)		GATCGTGGATCTGAAAGTGAC	0.358000														66			68		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585911	179585911	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:179585911T>C	uc021vsy.1	-	75	19328	c.19103A>G	c.(19102-19104)aAg>aGg	p.K6368R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K3029R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7295	Ig-like 45.						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)			TTCTAATTTCTTAACAAACTT	0.348000														46			15		0	0	1	0	0
FAM46A	55603	broad.mit.edu	37	6	82459706	82459706	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:82459706C>T	uc003pjf.3	-	2	1405	c.1092G>A	c.(1090-1092)gtG>gtA	p.V364V	FAM46A_uc003pjg.3_Silent_p.V345V	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	Homo sapiens family with sequence similarity 46, member A (FAM46A), mRNA.	345										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CTTCCAATCCCACAAAGTGGT	0.443000														62			20		0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73952001	73952001	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:73952001A>G	uc002jqe.3	-	4	927	c.566T>C	c.(565-567)gTt>gCt	p.V189A	ACOX1_uc010wsq.2_Missense_Mutation_p.V151A|ACOX1_uc010wsr.2_Missense_Mutation_p.V121A|ACOX1_uc002jqf.3_Missense_Mutation_p.V189A	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	189					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CTGGGCAAGAACTATTGCATG	0.408000														202			104		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131453	110131453	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:110131453C>T	uc003ymz.4	+	1	1055	c.966C>T	c.(964-966)ctC>ctT	p.L322L		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	322						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTTACAATCTCATGTCCCAGA	0.438000														224			85		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139906979	139906979	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:139906979G>A	uc004ckm.1	-	31	5282	c.5232C>T	c.(5230-5232)gcC>gcT	p.A1744A	ABCA2_uc022bpy.1_Silent_p.A1645A|ABCA2_uc022bpz.1_Silent_p.A1715A|ABCA2_uc011mem.1_Silent_p.A1714A|ABCA2_uc004ckl.1_Silent_p.A1645A|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1714					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCATGGGTGGGGCCCTGGTGC	0.687000														29			16		0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31540580	31540580	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:31540580G>A	uc001rkh.1	-	22	4038	c.3887C>T	c.(3886-3888)aCc>aTc	p.T1296I	DENND5B_uc001rki.1_Missense_Mutation_p.T1261I	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	1261						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TAGGACTATGGTGAAGTCCTG	0.507000														17			23		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807842	8807842	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:8807842C>T	uc002mkl.2	-	0	1331	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	404						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						CCCTGTTCCTCGTACTGCTCC	0.637000														41			17		0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125240020	125240020	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:125240020G>A	uc011lyu.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AGTGGCTAAGGAAGAAGTACA	0.527000														88			82		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41555585	41555585	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:41555585C>T	uc003xok.3	-	23	2697	c.2613G>A	c.(2611-2613)gtG>gtA	p.V871V	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.V187V|ANK1_uc003xoi.3_Silent_p.V871V|ANK1_uc003xoj.3_Silent_p.V871V|ANK1_uc003xol.3_Silent_p.V871V|ANK1_uc003xom.3_Silent_p.V912V	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	871					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)			CTGACCTGATCACCACTGTCT	0.562000														18			16		0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43571759	43571759	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:43571759G>A	uc002xmy.3	-	6	1061	c.921C>T	c.(919-921)aaC>aaT	p.N307N	PABPC1L_uc002xmx.3_Intron	NM_006809	NP_006800	Q15785	TOM34_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 34 (TOMM34), nuclear gene encoding mitochondrial protein, mRNA.	307					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TTTAGTGTAGGTTCTGCTTCA	0.527000														26			18		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6094763	6094763	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:6094763G>A	uc001qnn.1	-	38	7117	c.6867C>T	c.(6865-6867)gtC>gtT	p.V2289V	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2289	VWFC 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTGTGCAGTTGACCTTCCGCC	0.642000														20			5		0	0	1	0	0
FAM115A	9747	broad.mit.edu	37	7	143573514	143573514	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:143573514G>A	uc003wdo.2	-	1	321	c.188C>T	c.(187-189)tCc>tTc	p.S63F	FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Missense_Mutation_p.S63F	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN	Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.	63										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					GTCCTCATGGGACACGACCAC	0.582000														48			50		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802417	233802417	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:233802417C>T	uc010pxo.1	+	1	600	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	144						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GCATTCCCTTCACCCTCCTGT	0.587000														32			67		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17491664	17491664	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:17491664G>A	uc001mnc.3	-	2	522	c.396C>T	c.(394-396)ttC>ttT	p.F132F	ABCC8_uc010rcy.1_Silent_p.F132F|ABCC8_uc021qej.1_Non-coding_Transcript	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	132			F -> L (in PNDM; with neurologic features; reduces the sensitivity of the K(ATP) channel to inhibition by MgATP; increases whole-cell K(ATP) current).		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)	GCAGCTTGGGGAAGTTGGAAG	0.507000														10			32		0	0	1	0	0
HUS1	3364	broad.mit.edu	37	7	48007430	48007430	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:48007430G>A	uc003tod.2	-	6	839	c.733C>T	c.(733-735)Caa>Taa	p.Q245*		NM_004507	NP_004498	O60921	HUS1_HUMAN	Homo sapiens HUS1 checkpoint homolog (S. pombe) (HUS1), transcript variant 1, mRNA.	245					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GGATTTACTTGTTGTCCAGCA	0.403000								Direct reversal of damage;Other conserved DNA damage response genes						79			85		0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52555344	52555344	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:52555344A>T	uc002lfr.3	+	4	705	c.462A>T	c.(460-462)aaA>aaT	p.K154N		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	154					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TGGCTGACAAATATGGGTAAG	0.423000														82			65		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1117777	1117777	+	Silent	SNP	C	T	T	rs145334605	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:1117777C>T	uc001acy.2	+	9	1018	c.867C>T	c.(865-867)taC>taT	p.Y289Y	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Silent_p.Y289Y|TTLL10_uc001acz.2_Silent_p.Y216Y	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	289	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGAGACCTACCGCCTGGACC	0.612000														57			111		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001351	52001351	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:52001351C>T	uc002pwx.1	-	4	1382	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	SIGLEC12_uc002pww.1_Silent_p.G324G|SIGLEC12_uc010eoy.1_Silent_p.G169G	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	442	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGGTGAATTCCCCTTCATCCT	0.612000														33			9		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131683	110131683	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:110131683G>A	uc003ymz.4	+	1	1285	c.1196G>A	c.(1195-1197)tGa>tAa	p.*399*		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	0						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AGCCAAAGTTGATTCATGAAT	0.403000														45			18		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582574	55582574	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:55582574C>T	uc010qhy.1	-	34	5328	c.4933G>A	c.(4933-4935)Gaa>Aaa	p.E1645K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1640K|PCDH15_uc021pqz.1_Missense_Mutation_p.E1615K|PCDH15_uc010qhv.1_Missense_Mutation_p.E1635K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1598K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1569K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1640K|PCDH15_uc010qia.1_Missense_Mutation_p.E1618K|PCDH15_uc001jju.1_Missense_Mutation_p.E1638K|PCDH15_uc010qib.1_Missense_Mutation_p.E1615K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1638					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)				TGCCTTATTTCCTCTTTCTCT	0.398000										HNSCC(58;0.16)				77			27		0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129867244	129867244	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:129867244A>G	uc003igp.2	-	15	1863	c.1357T>C	c.(1357-1359)Ttc>Ctc	p.F453L	SCLT1_uc003ign.2_Missense_Mutation_p.F117L|SCLT1_uc003igo.2_Missense_Mutation_p.F63L|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	453						centrosome		p.F453F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GAAACCAGGAATCTTTGGTGC	0.353000														56			6		0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572826	53572827	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:53572826_53572827CC>TT	uc010eqk.3	-	6	1376_1377	c.960_961GG>AA	c.(958-963)aaggtc>aaAAtc	p.V321I	ZNF160_uc002qaq.4_Missense_Mutation_p.V321I|ZNF160_uc002qar.4_Missense_Mutation_p.V321I	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	321					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGCCTGAAGACCTTGCCACACT	0.421000														115			39		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62518605	62518605	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:62518605G>A	uc003dll.2	-	12	2592	c.2232C>T	c.(2230-2232)atC>atT	p.I744I	CADPS_uc003dlk.1_Silent_p.I248I|CADPS_uc003dlm.2_Silent_p.I744I|CADPS_uc003dln.2_Silent_p.I727I|CADPS_uc021wzv.1_Silent_p.I744I	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	744					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.I744I(3)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGGTGGGGTCGATCATGGCGC	0.517000														31			37		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687708	11687708	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:11687708G>A	uc002gne.3	+	40	7981	c.7913G>A	c.(7912-7914)gGa>gAa	p.G2638E	DNAH9_uc010coo.3_Missense_Mutation_p.G1932E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2638	AAA 3 (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	p.L2637L(1)|p.G2638*(1)		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)		CTGAAGCTCGGAAACTTCCCG	0.562000														45			115		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37186469	37186469	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:37186469G>A	uc011cpa.1	-	23	4339	c.4108C>T	c.(4108-4110)Ccc>Tcc	p.P1370S	C5orf42_uc011coy.1_5'Flank|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P445S|C5orf42_uc011cpb.1_Missense_Mutation_p.P251S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1370										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCAGGATAGGGAAATGCTTTC	0.338000														51			54		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874935	80874935	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:80874935C>T	uc010ysh.2	+	17	2805	c.2800C>T	c.(2800-2802)Cag>Tag	p.Q934*	CTNNA2_uc010yse.2_Nonsense_Mutation_p.Q886*|CTNNA2_uc010ysf.2_Nonsense_Mutation_p.Q886*|CTNNA2_uc010ysg.2_Nonsense_Mutation_p.Q841*|CTNNA2_uc010ysi.2_Nonsense_Mutation_p.Q518*|CTNNA2_uc010ysj.2_Nonsense_Mutation_p.Q215*	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	934					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACGAGGTTCTCAGAAGAAACA	0.423000														147			69		0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21833026	21833026	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:21833026G>A	uc001wao.2	-	9	1532	c.1193C>T	c.(1192-1194)aCc>aTc	p.T398I		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	398					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CAGGGCATAGGTTTTCTCTTC	0.428000														43			40		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956091	96956091	+	Silent	SNP	G	A	A	rs138641050		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:96956091G>A	uc002svu.3	-	19	2847	c.2715C>T	c.(2713-2715)atC>atT	p.I905I		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	905	Helicase C-terminal 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.I905I(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTCCTAGCACGATTTCTGCAT	0.512000														152			137		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084835	248084835	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:248084835C>T	uc010pzc.2	+	0	516	c.516C>T	c.(514-516)atC>atT	p.I172I		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACACGAGATCGATCACTTCT	0.562000														50			14		0	0	1	0	0
LCN10	414332	broad.mit.edu	37	9	139636463	139636463	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:139636463A>G	uc004civ.3	-	1	186	c.127T>C	c.(127-129)Ttc>Ctc	p.F43L	LCN10_uc010nbq.3_Missense_Mutation_p.F43L|LCN10_uc011mee.2_Missense_Mutation_p.F43L|LCN10_uc011mef.2_Non-coding_Transcript|LCN10_uc011med.2_Intron|LCN10_uc004ciw.3_Non-coding_Transcript|LCN10_uc022bpt.1_5'Flank	NM_001001712	NP_001001712	Q6JVE6	LCN10_HUMAN	Homo sapiens lipocalin 10 (LCN10), mRNA.	43					transport	extracellular region	binding			breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		ATGTACCAGAACCCTGAAAAC	0.622000														8			4		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720501	95720501	+	Missense_Mutation	SNP	T	C	C	rs12571819	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:95720501T>C	uc009xuj.2	-	0	1172	c.653A>G	c.(652-654)cAg>cGg	p.Q218R						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		TCGCTCTTTCTGGGAAGCCCG	0.448000														52			4		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459581	186459581	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:186459581G>A	uc011bsa.2	+	9	1630	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	466	His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	p.E466K(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CCATGGACACGAACAACAGCA	0.463000														30			10		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94467528	94467528	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:94467528C>T	uc001dqh.3	-	44	6272	c.6168G>A	c.(6166-6168)aaG>aaA	p.K2056K	ABCA4_uc001dqi.1_Silent_p.K175K	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2056	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGCCCAGGCTCTTAATACTCC	0.557000														84			23		0	0	1	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	108208	108208	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrGL000213.1:108208C>T	uc011mfl.1	-	10	1621	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	525						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ACGCTGTTTTCACGCAAGAGA	0.358000														57			26		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766381	88766382	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:88766381_88766382AC>CT	uc021xpx.1	+	3	466_467	c.454_455AC>CT	c.(454-456)act>CTt	p.T152L	MEPE_uc021xpu.1_Missense_Mutation_p.T121L|MEPE_uc021xpv.1_Missense_Mutation_p.T8L|MEPE_uc021xpw.1_Missense_Mutation_p.T8L|MEPE_uc010ikn.3_Missense_Mutation_p.T8L|MEPE_uc003hqy.3_Missense_Mutation_p.T121L|MEPE_uc021xpy.1_Missense_Mutation_p.T8L	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	121					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TCCTAAGTCAACTGGGAATAAA	0.356000														84			22		0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60998446	60998446	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:60998446G>A	uc001jkk.4	+	3	843	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	PHYHIPL_uc001jkl.4_Missense_Mutation_p.E147K|PHYHIPL_uc001jkm.4_Missense_Mutation_p.E167K	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein-like (PHYHIPL), transcript variant 1, mRNA.	193										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						TCAGCACAAAGAATATTTTGA	0.323000														54			21		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038642	75038642	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:75038642C>T	uc001dgg.3	-	13	2971	c.2752G>A	c.(2752-2754)Gaa>Aaa	p.E918K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	918	Glu-rich.							p.H917R(1)		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						GCTGCTACTTCATGAAGATGC	0.537000														153			294		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108619381	108619381	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:108619381C>T	uc022cch.1	-	16	3251	c.3166G>A	c.(3166-3168)Gaa>Aaa	p.E1056K	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.E1056K	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	1056					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.E1055*(1)|p.E1055D(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CAGAAGGTTTCCTCTGTGCCT	0.403000														14			99		0	0	1	0	0
OTOS	150677	broad.mit.edu	37	2	241078628	241078628	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:241078628C>T	uc002vyv.3	-	3	384	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank	NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	Homo sapiens otospiralin (OTOS), mRNA.	77						extracellular region		p.L76L(1)		endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGCGTGCTCCCCAGGGGGAAG	0.647000														54			28		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968024	4968024	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:4968024C>T	uc010qys.2	-	0	307	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAATTCCTGGGCAAAG	0.443000														147			129		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32091172	32091172	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:32091172G>A	uc003tcm.2	-	1	583	c.122C>T	c.(121-123)tCc>tTc	p.S41F	PDE1C_uc003tcn.1_Missense_Mutation_p.S41F|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Missense_Mutation_p.S41F|PDE1C_uc003tcs.3_Missense_Mutation_p.S41F	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	41					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTACCTCTGGGACGTTTTCTT	0.438000														51			21		0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102574540	102574540	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:102574540C>T	uc003vau.3	+	1	569	c.180C>T	c.(178-180)ctC>ctT	p.L60L	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Silent_p.L60L	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	60					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACACATATCTCCATGAGAAAT	0.522000														35			59		0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93393939	93393939	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:93393939G>A	uc001ybc.4	+	3	492	c.232G>A	c.(232-234)Gag>Aag	p.E78K	CHGA_uc001ybd.4_Missense_Mutation_p.E78K	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	78					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		TTTACTGAAGGAGCTCCAAGA	0.453000														148			63		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470642	10470642	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:10470642G>A	uc003wtc.3	-	3	1195	c.966C>T	c.(964-966)tcC>tcT	p.S322S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	322					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)		TCATCTCCACGGACAGGCTGC	0.657000														91			19		0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34096763	34096763	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:34096763G>A	uc003ztt.2	-	5	1154	c.812C>T	c.(811-813)tCt>tTt	p.S271F		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12 (DCAF12), mRNA.	271						CUL4 RING ubiquitin ligase complex|centrosome				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GCCATCCAGAGACACTGCTCC	0.383000														11			30		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753769	38753769	+	Silent	SNP	C	T	T	rs149883899	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:38753769C>T	uc003ciq.3	-	21	3972	c.3972G>A	c.(3970-3972)tcG>tcA	p.S1324S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1324					sensory perception	voltage-gated sodium channel complex		p.S1324L(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TATTCACAATCGACAAAGGTA	0.443000														72			80		0	0	1	0	0
C1orf49	84066	broad.mit.edu	37	1	178485756	178485756	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:178485756G>A	uc001glt.2	+	4	335	c.223G>A	c.(223-225)Gat>Aat	p.D75N	C1orf49_uc021pfd.1_Missense_Mutation_p.D75N|C1orf49_uc001glu.1_Missense_Mutation_p.D75N|C1orf49_uc021pfe.1_Missense_Mutation_p.D75N|C1orf49_uc001glw.2_Missense_Mutation_p.D83N|C1orf49_uc001glv.1_Non-coding_Transcript	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA.	75						microtubule cytoskeleton		p.D75Y(3)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						TTAGATAAAGGATCTAATGGA	0.403000														22			26		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7016539	7016539	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:7016539A>C	uc002knm.3	-	20	3034	c.2940T>G	c.(2938-2940)tgT>tgG	p.C980W	LAMA1_uc010wzj.2_Missense_Mutation_p.C456W	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	980	Laminin EGF-like 10.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACACCTGTCACACCTTTTCC	0.562000														46			37		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170031769	170031769	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:170031769G>A	uc002ues.3	-	54	10915	c.10702C>T	c.(10702-10704)Ccg>Tcg	p.P3568S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3568	LDL-receptor class A 27.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.P3568L(1)		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)	AAAGTCTGCGGGCTGGTGCAG	0.532000														58			36		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528438	20528438	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:20528438C>T	uc001vwn.1	+	0	235	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGCCACAACACCCAAGATGAT	0.473000														95			126		0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081855	54081855	+	Silent	SNP	G	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:54081855G>C	uc021vhn.1	-	0	39	c.39C>G	c.(37-39)gcC>gcG	p.A13A	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Silent_p.A13A	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	13						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGAGCGAGGTGGCATTGGGGG	0.532000														109			39		0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27543168	27543168	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:27543168G>A	uc001rht.2	+	8	1134	c.915G>A	c.(913-915)aaG>aaA	p.K305K	ARNTL2_uc001rhu.2_Silent_p.K291K|ARNTL2_uc001rhv.2_Silent_p.K257K|ARNTL2_uc001rhw.3_Silent_p.K268K|ARNTL2_uc010sjp.2_Silent_p.K268K|ARNTL2_uc009zji.2_Silent_p.K271K|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	305					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ACTCAAAGAAGAAAGGTATCA	0.343000														55			26		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91961	91961	+	RNA	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrGL000211.1:91961C>T	uc003bnz.1	+	6		c.1317C>T			FLJ43315_uc003boa.3_Intron					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTATAGATTTCCATTATTGTC	0.308000														9			3		0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062447	46062447	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:46062447G>A	uc003cpe.3	-	2	1217	c.993C>T	c.(991-993)tcC>tcT	p.S331S	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Silent_p.S331S|XCR1_uc021wwx.1_Silent_p.S331S	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	331					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTCAGTAGAAGGAGGCGCCCT	0.642000														9			5		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47125335	47125335	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:47125335G>A	uc003cqv.3	-	12	6222	c.6136C>T	c.(6136-6138)Cca>Tca	p.P2046S	SETD2_uc003cqs.3_Missense_Mutation_p.P1979S|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTTGGGATGGTGTTTCTTCA	0.443000			"""N, F, S, Mis"""		clear cell renal carcinoma									115			55		0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1281305	1281305	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:1281305C>T	uc002wet.3	+	5	1071	c.390C>T	c.(388-390)atC>atT	p.I130I	SNPH_uc002wes.3_Silent_p.I86I	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	86					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGGTGTGCATCCGGCACCTGA	0.657000														23			18		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7285528	7285528	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:7285528G>A	uc009xio.2	-	8	1203	c.1112C>T	c.(1111-1113)cCt>cTt	p.P371L	SFMBT2_uc001ijn.2_Missense_Mutation_p.P371L|SFMBT2_uc010qay.2_Missense_Mutation_p.P371L	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	371					regulation of transcription, DNA-dependent	nucleus		p.P371L(2)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACCTTTGGGAGGAGTGAGGCT	0.468000														45			19		0	0	1	0	0
AP3M2	10947	broad.mit.edu	37	8	42012427	42012427	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:42012427C>T	uc003xop.3	+	2	513	c.222C>T	c.(220-222)gtC>gtT	p.V74V	AP3M2_uc003xoo.3_Silent_p.V74V|AP3M2_uc010lxe.3_Non-coding_Transcript|AP3M2_uc003xoq.2_5'UTR	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	74					intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			AGACGGAGGTCCCCCCTCTGT	0.468000														57			20		0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234442296	234442296	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:234442296G>A	uc010zmr.2	-	9	1333	c.1333C>T	c.(1333-1335)Cct>Tct	p.P445S	USP40_uc010zmt.1_Missense_Mutation_p.P89S	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	433					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GATTCTGGAGGAAGCATCTTG	0.408000														33			44		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:40367841T>G	uc002omp.4	-	28	13127	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4373	TIL 10.					extracellular region	protein binding	p.A4373A(4)		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)			TCGTAAGGGGTGCAGGGGACG	0.627000														22			9		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45511868	45511868	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr21:45511868C>T	uc002zea.3	+	18	3104	c.2935C>T	c.(2935-2937)Ctt>Ttt	p.L979F	TRAPPC10_uc010gpo.3_Missense_Mutation_p.L690F|TRAPPC10_uc011afa.2_Missense_Mutation_p.L357F|TRAPPC10_uc011afb.1_Missense_Mutation_p.L84F	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	979					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGATAGTTATCTTGTAGATAC	0.383000														141			66		0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44683497	44683497	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:44683497C>T	uc003cnm.3	+	5	1081	c.875C>T	c.(874-876)cCc>cTc	p.P292L	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	292					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)		GGAAGTGTTCCCCAGGTCCTT	0.433000														31			8		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67231815	67231815	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:67231815C>T	uc002lkl.3	+	1	356	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	53	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGCTTATTTCAGAAACTTTC	0.408000														34			28		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7240823	7240823	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:7240823C>T	uc003mxb.3	+	10	4453	c.3961C>T	c.(3961-3963)Cat>Tat	p.H1321Y	RREB1_uc021yky.1_Intron|RREB1_uc003mxc.3_Intron|RREB1_uc010jnx.3_Missense_Mutation_p.H1321Y|RREB1_uc021ykz.1_Intron|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1272				P -> R (in Ref. 6; AAC25598/AAC26118).	Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.P1321P(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGTTGGATCCCATGATAGCAC	0.517000														26			24		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642767	57642767	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:57642767C>T	uc002qny.3	+	3	3080	c.2724C>T	c.(2722-2724)atC>atT	p.I908I	USP29_uc021vci.1_Silent_p.I908I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	908					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGGGGTGATCCCTCAGGGGG	0.473000														34			50		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130984863	130984863	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:130984863C>T	uc022bob.1	+	7	1203	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	DNM1_uc022bnx.1_Silent_p.F372F|DNM1_uc022bny.1_Silent_p.F372F|DNM1_uc022bnz.1_Silent_p.F372F|DNM1_uc022boa.1_Silent_p.F372F	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	372					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCTTCCCTTTCGAGCTGGTCA	0.587000														36			43		0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57714210	57714210	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:57714210C>T	uc002emh.3	+	6	804	c.701C>T	c.(700-702)tCc>tTc	p.S234F	GPR97_uc010vhv.2_Missense_Mutation_p.S114F|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_5'UTR	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	234	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S234S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAGGGCTGCTCCACGGAGGTC	0.622000														25			5		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174677	207174677	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:207174677G>A	uc002vbp.2	+	4	5675	c.5425G>A	c.(5425-5427)Gag>Aag	p.E1809K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1809							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						GGATGTCATAGAGGATAATCC	0.403000														38			40		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324415	31324415	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:31324415C>T	uc010dmg.1	+	11	4658	c.4603C>T	c.(4603-4605)Cac>Tac	p.H1535Y	ASXL3_uc002kxq.2_Missense_Mutation_p.H1242Y	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGGTATAGATCACAGTTCCAC	0.527000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			15		0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46925764	46925764	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:46925764C>T	uc010wlr.2	+	4	515	c.436C>T	c.(436-438)Cct>Tct	p.P146S	CALCOCO2_uc010wlq.2_Missense_Mutation_p.P50S|CALCOCO2_uc010wls.2_Missense_Mutation_p.P122S|CALCOCO2_uc002iof.3_Missense_Mutation_p.P122S|CALCOCO2_uc010wlp.2_Missense_Mutation_p.P143S	NM_005831	NP_005822	Q13137	CACO2_HUMAN	Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA.	122					response to interferon-gamma|viral reproduction	Golgi apparatus|cytoskeleton|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGCAAGTATTCCTTTCCAATT	0.448000														169			64		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34276417	34276417	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:34276417G>A	uc001bxm.1	-	9	1550	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	CSMD2_uc001bxn.1_Missense_Mutation_p.S418F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	418	CUB 3.					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)				GAAATTGGGGGAGGTGATGAT	0.547000														166			32		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236282	33236282	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:33236282C>T	uc001bvu.1	+	5	1546	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L	KIAA1522_uc010ohm.1_Missense_Mutation_p.P453L|KIAA1522_uc001bvv.2_Missense_Mutation_p.P442L|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	442	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCACCCCCTCCCCGCCGGACC	0.647000														21			8		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228481315	228481315	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:228481315G>A	uc009xez.1	+	40	11173	c.11129G>A	c.(11128-11130)aGg>aAg	p.R3710K	OBSCN_uc001hsn.3_Missense_Mutation_p.R3710K|OBSCN_uc001hsq.1_Missense_Mutation_p.R966K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3710					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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				CTCACCGTCAGGGGTAAAGGC	0.612000														37			14		0	0	1	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988879	103988879	+	Missense_Mutation	SNP	G	A	A	rs140986921		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:103988879G>A	uc001kut.3	+	3	846	c.683G>A	c.(682-684)gGa>gAa	p.G228E		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	Homo sapiens ELOVL fatty acid elongase 3 (ELOVL3), mRNA.	228					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CAGGATCAGGGATGCCACACC	0.512000														26			14		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468963	56468963	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:56468963G>A	uc021wzo.1	-	0	213	c.73C>T	c.(73-75)Cct>Tct	p.P25S	ERC2_uc003dhr.1_Missense_Mutation_p.P25S	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	25						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCCAAACGAGGAGACCTTGGC	0.483000														45			11		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72939610	72939610	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:72939610G>A	uc001xna.4	+	8	1090	c.567G>A	c.(565-567)agG>agA	p.R189R	RGS6_uc021rvv.1_Silent_p.R154R|RGS6_uc010ttn.2_Silent_p.R189R|RGS6_uc021rvw.1_Silent_p.R189R|RGS6_uc021rvx.1_Silent_p.R189R|RGS6_uc021rvy.1_Silent_p.R189R|RGS6_uc021rvz.1_Silent_p.R189R|RGS6_uc001xmy.4_Silent_p.R189R|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.R189R|RGS6_uc021rwa.1_Silent_p.R189R|RGS6_uc021rwb.1_Silent_p.R189R|RGS6_uc010ttp.1_Silent_p.R120R|RGS6_uc021rwc.1_Silent_p.R50R|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	189					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGACAGAAAGGAAAATTTTGG	0.398000														160			49		0	0	1	0	0
POGK	57645	broad.mit.edu	37	1	166818659	166818659	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:166818659C>T	uc001gdt.1	+	4	963	c.843C>T	c.(841-843)acC>acT	p.T281T	POGK_uc010ple.1_Silent_p.T196T|POGK_uc010plf.1_Silent_p.T163T	NM_017542	NP_060012	Q9P215	POGK_HUMAN	Homo sapiens pogo transposable element with KRAB domain (POGK), mRNA.	281	HTH CENPB-type.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						ACCCCATCACCCGGGAGGCGA	0.557000														65			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444752	179444752	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:179444752C>T	uc021vsy.1	-	266	59783	c.59558G>A	c.(59557-59559)gGa>gAa	p.G19853E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G13548E|TTN_uc021vta.1_Missense_Mutation_p.G13481E|TTN_uc021vtb.1_Missense_Mutation_p.G13356E|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20780	Ig-like 110.						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)			GTAGGATTTTCCCTCCTCCAA	0.443000														93			95		0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44791738	44791738	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:44791738T>C	uc002oza.4	-	4	1953	c.1850A>G	c.(1849-1851)cAt>cGt	p.H617R	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.H613R	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GACTCTCTGATGGGCTTGAAG	0.468000														94			109		0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134483189	134483189	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:134483189C>T	uc004eys.3	+	2	674	c.509C>T	c.(508-510)cCg>cTg	p.P170L	ZNF449_uc004eyq.1_3'UTR|ZNF449_uc004eyt.3_Missense_Mutation_p.P50L	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	170					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGCCACCGGAGCTGAAC	0.532000														10			56		0	0	1	0	0
ASNA1	439	broad.mit.edu	37	19	12858340	12858340	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:12858340C>T	uc002muv.3	+	5	863	c.849C>T	c.(847-849)ccC>ccT	p.P283P		NM_004317	NP_004308	O43681	ASNA_HUMAN	Homo sapiens arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) (ASNA1), mRNA.	283					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	ATP binding|arsenite-transporting ATPase activity|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	TCGTCTTCCCCGACCCCGAGA	0.562000														31			11		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247509	149247509	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:149247509C>T	uc002twm.4	+	11	4606	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.P461P|MBD5_uc002twp.3_Silent_p.P253P	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1203						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGCAAAGCCCCAGAGGGGAGC	0.468000														121			47		0	0	1	0	0
SIRT3	23410	broad.mit.edu	37	11	233160	233160	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:233160C>T	uc001lok.4	-	2	563	c.529G>A	c.(529-531)Gag>Aag	p.E177K	SIRT3_uc001loj.4_Missense_Mutation_p.E35K|SIRT3_uc010qvm.2_Missense_Mutation_p.E113K|SIRT3_uc010qvn.2_Missense_Mutation_p.E96K|SIRT3_uc010qvo.2_Missense_Mutation_p.E177K|SIRT3_uc010qvp.2_Missense_Mutation_p.E177K|SIRT3_uc010qvq.2_Missense_Mutation_p.E35K|SIRT3_uc009ybt.1_Non-coding_Transcript	NM_012239	NP_001017524	Q9NTG7	SIRT3_HUMAN	Homo sapiens sirtuin 3 (SIRT3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	177	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		AAAATGGCCTCGGGGTACGGG	0.542000														6			27		0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79805119	79805119	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:79805119C>T	uc002kbn.1	-	5	926	c.729_splice	c.e5+1	p.Q243_splice	P4HB_uc002kbl.1_Splice_Site|P4HB_uc002kbm.1_Splice_Site	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	243					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GCAGCCGCACCTGCTCGGTGA	0.607000														126			59		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947432	165947433	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:165947432_165947433GG>AA	uc002ucx.3	-	27	5722_5723	c.5230_5231CC>TT	c.(5230-5232)cca>TTa	p.P1744L	SCN3A_uc010zcy.2_Missense_Mutation_p.P227L|SCN3A_uc002ucy.3_Missense_Mutation_p.P1695L|SCN3A_uc002ucz.3_Missense_Mutation_p.P1695L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1744						voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	CCCAACAGATGGGTTCCCACAG	0.475000														222			16		0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78422296	78422296	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:78422296G>A	uc001dii.3	-	16	1755	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Missense_Mutation_p.P577S	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	556	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCACCTGCAGGGGCTGCTGGT	0.423000			"""F, N"""		oligodendroglioma									52			92		0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100151772	100151772	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:100151772C>T	uc003uvf.3	+	4	778	c.642C>T	c.(640-642)ccC>ccT	p.P214P	AGFG2_uc003uvg.1_Intron	NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	214					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCCACCTCCCCACTCCTCTG	0.577000														40			54		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11835360	11835360	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:11835360G>A	uc002gne.3	+	63	12203	c.12135G>A	c.(12133-12135)acG>acA	p.T4045T	DNAH9_uc010coo.3_Silent_p.T3263T|DNAH9_uc002gnf.3_Silent_p.T357T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4045	AAA 6 (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)		CTCGGGAGACGGAGTTTAAGA	0.493000														69			150		0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204075774	204075774	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:204075774G>A	uc002uzt.3	+	52	8125	c.7792G>A	c.(7792-7794)Gaa>Aaa	p.E2598K	NBEAL1_uc021vvj.1_Missense_Mutation_p.E1232K|NBEAL1_uc002uzu.3_Missense_Mutation_p.E93K	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2598							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TATAATCGGAGAACACATTGT	0.353000														52			39		0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216948	78216948	+	Missense_Mutation	SNP	G	A	A	rs34634066		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:78216948G>A	uc022bzl.1	+	0	931	c.931G>A	c.(931-933)Gag>Aag	p.E311K	P2RY10_uc004ede.3_Missense_Mutation_p.E311K|P2RY10_uc004edf.3_Missense_Mutation_p.E311K	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	311						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TATGGCTTCAGAGTTTCGTGA	0.468000														13			99		0	0	1	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163787	32163787	+	RNA	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:32163787C>T	uc002ecx.3	-	0		c.88G>A								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		GAAGGCCTTCCCGCAAAGCTG	0.532000														67			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074222	9074222	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:9074222G>A	uc002mkp.3	-	2	13428	c.13224C>T	c.(13222-13224)acC>acT	p.T4408T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4410	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						AGTAAGGCATGGTTGATGTGT	0.473000														118			32		0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61471977	61471977	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:61471977C>T	uc002ydm.3	+	31	1951	c.1948C>T	c.(1948-1950)Cca>Tca	p.P650S	COL9A3_uc002ydn.3_Missense_Mutation_p.P144S	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	650	Triple-helical region 1 (COL1).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TCCTGGGCTTCCAGGTGCCAT	0.677000														10			5		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356795	42356795	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:42356795C>T	uc001wvm.3	+	2	2165	c.967C>T	c.(967-969)Cct>Tct	p.P323S	LRFN5_uc010ana.3_Missense_Mutation_p.P323S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	323	Ig-like.					integral to membrane		p.P323R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGGATTTCTCCTGAAGGGAA	0.453000										HNSCC(30;0.082)				53			75		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596940	179596940	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:179596940C>T	uc021vsy.1	-	53	13249	c.13024G>A	c.(13024-13026)Gag>Aag	p.E4342K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1003K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5269	Ig-like 23.						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)			TTGCTGCTCTCCTTAATTTCT	0.433000														177			93		0	0	1	0	0
TIAL1	7073	broad.mit.edu	37	10	121338307	121338307	+	Silent	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:121338307A>G	uc001lei.1	-	6	1051	c.487T>C	c.(487-489)Ttg>Ctg	p.L163L	TIAL1_uc001leh.1_Silent_p.L141L|TIAL1_uc001lej.1_Silent_p.L180L|TIAL1_uc001lek.1_Silent_p.L40L|TIAL1_uc010qtb.1_Silent_p.L40L	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	163	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CGACCACCCAACCACTGACCG	0.403000														20			7		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56097972	56097972	+	Silent	SNP	T	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:56097972T>A	uc002rzi.3	-	10	1704	c.1203A>T	c.(1201-1203)cgA>cgT	p.R401R	EFEMP1_uc002rzj.3_Silent_p.R401R|EFEMP1_uc010ypc.2_Silent_p.R263R	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	401	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTATCAGATCGGATGCTCA	0.428000														113			9		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67709357	67709357	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:67709357G>A	uc002aqo.2	+	14	2283	c.2186G>A	c.(2185-2187)tGg>tAg	p.W729*	IQCH_uc002aqp.2_Nonsense_Mutation_p.W390*|IQCH_uc002aqq.2_Nonsense_Mutation_p.W386*|LOC100506686_uc002aqr.2_Intron|LOC100506686_uc021spf.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	729										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTCCCGACGTGGAGGAAATTC	0.453000														21			26		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947138	150947138	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:150947138T>C	uc003lue.4	-	0	1368	c.1355A>G	c.(1354-1356)aAc>aGc	p.N452S	FAT2_uc010jhx.1_Missense_Mutation_p.N452S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	452	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCATGGTTGTTGCAGTCCAC	0.552000														36			51		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37464766	37464766	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:37464766C>T	uc002xje.3	+	1	387	c.198C>T	c.(196-198)ttC>ttT	p.F66F	PPP1R16B_uc010ggc.3_Silent_p.F66F	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	66					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.F66F(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAGTGTCCTTCGAGGCCAGCG	0.652000														21			23		0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27308495	27308495	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:27308495G>A	uc002hdp.2	-	1	812	c.618C>T	c.(616-618)atC>atT	p.I206I	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Silent_p.I206I|SEZ6_uc002hdq.1_Silent_p.I81I|SEZ6_uc010crz.1_Silent_p.I206I	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	206						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)			CCTGGATCCCGATCCCTGCGC	0.607000														7			10		0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9453708	9453708	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:9453708C>T	uc002mle.4	+	5	2180	c.1773C>T	c.(1771-1773)acC>acT	p.T591T	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Silent_p.T485T|ZNF559_uc010xkn.2_Silent_p.T519T|ZNF559_uc021uok.1_Silent_p.T527T|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GTGGGCAAACCTTTAGTAATT	0.408000														80			75		0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89307482	89307483	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:89307482_89307483CC>TT	uc010ath.3	+	3	535_536	c.401_402CC>TT	c.(400-402)acc>aTT	p.T134I	TTC8_uc010atg.1_Non-coding_Transcript|TTC8_uc001xxi.3_Missense_Mutation_p.T144I|TTC8_uc001xxj.3_Missense_Mutation_p.T134I|TTC8_uc001xxk.3_Missense_Mutation_p.T134I|TTC8_uc001xxl.3_5'UTR|TTC8_uc010ati.3_5'UTR|TTC8_uc010atj.3_Intron	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	144					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ACACCCAGAACCGCCTACACAG	0.525000														25			37		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106692098	106692098	+	RNA	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:106692098G>A	uc021ser.1	-	1154		c.24988C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.483000														123			26		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55222270	55222270	+	RNA	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:55222270G>A	uc002qgs.1	+	0		c.2670G>A			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GGACGCTAAGGAAAGAGGGGA	0.642000														18			15		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15648189	15648189	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:15648189G>C	uc002nbh.4	+	4	552	c.385G>C	c.(385-387)Gat>Cat	p.D129H		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	129						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGCCCCCAAGGATGACCTCTT	0.498000														31			42		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119927499	119927499	+	Silent	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:119927499A>G	uc001ehr.1	+	3	516	c.384A>G	c.(382-384)caA>caG	p.Q128Q	HAO2_uc001ehq.1_Silent_p.Q128Q	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	128	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GATGGTTCCAACTCTATGTGC	0.488000														164			42		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55922446	55922446	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:55922446C>T	uc021wzo.1	-	12	2675	c.2535G>A	c.(2533-2535)agG>agA	p.R845R	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Silent_p.R841R|ERC2_uc003dht.1_Silent_p.R324R	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	845						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCAGCTGTTTCCTCCTCTCAA	0.557000														87			44		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102247616	102247616	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:102247616C>T	uc003pqp.4	+	6	1338	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	GRIK2_uc003pqn.3_Nonsense_Mutation_p.R349*|GRIK2_uc010kcw.3_Nonsense_Mutation_p.R349*|GRIK2_uc003pqo.4_Nonsense_Mutation_p.R349*|GRIK2_uc021zdk.1_Nonsense_Mutation_p.R349*|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	349					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R349Q(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GCAGTGTAATCGACATAAACC	0.453000														74			21		0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725526	158725526	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:158725526C>T	uc001fsw.1	+	0	921	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	307					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)					CTTTTGTTATCCTTGCTCCCT	0.438000														149			30		0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7817757	7817757	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:7817757G>A	uc001ijt.3	-	5	658	c.564C>T	c.(562-564)gtC>gtT	p.V188V	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_Silent_p.V82V	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	188					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TAAAAGTAGGGACCTCCTAAA	0.313000														19			11		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123781520	123781520	+	Silent	SNP	G	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:123781520G>C	uc001lfv.3	+	1	384	c.24G>C	c.(22-24)tcG>tcC	p.S8S	TACC2_uc001lfw.3_Silent_p.S8S|TACC2_uc009xzx.3_Silent_p.S8S|TACC2_uc010qtv.2_Silent_p.S8S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	8						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)				ACAGCACCTCGGACAACCAGG	0.502000														19			9		0	0	1	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223960	142223960	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:142223960C>T	uc003vyi.2	-	1	224	c.207G>A	c.(205-207)caG>caA	p.Q69Q	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CACTCTCATCCTGAAATTGAA	0.507000														70			28		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882191	228882191	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:228882191C>T	uc002vpq.2	-	6	3426	c.3379G>A	c.(3379-3381)Gat>Aat	p.D1127N	SPHKAP_uc002vpp.2_Missense_Mutation_p.D1127N|SPHKAP_uc010zlx.1_Missense_Mutation_p.D1127N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1127						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)		GAAAACTCATCGGTGATGCTC	0.532000														38			34		0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74923628	74923628	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:74923628G>A	uc002fdh.1	-	20	2270	c.2168C>T	c.(2167-2169)cCa>cTa	p.P723L	WDR59_uc002fdf.1_Missense_Mutation_p.P168L|WDR59_uc002fdg.1_Missense_Mutation_p.P315L	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	723										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCGCCCAAATGGATGTCGAGC	0.473000														33			20		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573629	76573629	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:76573629C>T	uc002fex.1	+	18	3382	c.3243C>T	c.(3241-3243)atC>atT	p.I1081I	CNTNAP4_uc002feu.1_Silent_p.I1077I|CNTNAP4_uc002fev.1_Silent_p.I942I|CNTNAP4_uc010chb.1_Silent_p.I1005I	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1078	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTTTGCAGATCAGGTACAAGT	0.333000														40			14		0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140631107	140631107	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:140631107G>A	uc003yvf.1	-	1	583	c.519C>T	c.(517-519)atC>atT	p.I173I	KCNK9_uc003yvg.1_Silent_p.I173I|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	173						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGGCCGCCCCGATGCACAGCG	0.562000														24			21		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136203	92136203	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:92136203C>T	uc001xzs.1	-	13	1382	c.1242G>A	c.(1240-1242)atG>atA	p.M414I	CATSPERB_uc010aub.1_5'UTR	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	414					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GATGAAATACCATTCCAACGG	0.408000														64			17		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849364	73849364	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:73849364G>A	uc003xzb.3	+	2	2362	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	592					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGCACAGACCGAGGTCATTGT	0.562000														69			24		0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53854884	53854884	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:53854884C>T	uc001sdl.4	+	6	811	c.461C>T	c.(460-462)tCc>tTc	p.S154F	PCBP2_uc001sde.4_Missense_Mutation_p.S154F|PCBP2_uc001sdi.4_Missense_Mutation_p.S154F|PCBP2_uc001sdd.4_Missense_Mutation_p.S154F|PCBP2_uc001sdf.4_Missense_Mutation_p.S154F|PCBP2_uc001sdc.4_Missense_Mutation_p.S154F|PCBP2_uc001sdb.4_Missense_Mutation_p.S154F|PCBP2_uc010soi.2_5'Flank|PCBP2_uc010soj.2_5'Flank|PCBP2_uc001sdk.4_5'Flank|PCBP2_uc010soh.1_Missense_Mutation_p.S154F|PCBP2_uc001sdg.1_Non-coding_Transcript	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	154	KH 2.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ATTCCACAATCCATCATTGAG	0.532000														19			24		0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47705472	47705472	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:47705472G>A	uc002rvy.1	+	13	2340	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N	MSH2_uc010yoh.1_Missense_Mutation_p.D692N|MSH2_uc002rvz.3_Missense_Mutation_p.D758N|MSH2_uc010fbg.2_Missense_Mutation_p.D568N	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	758					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCTACCTACGATGGATTTGG	0.373000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					110			128		0	0	1	0	0
MAX	4149	broad.mit.edu	37	14	65472892	65472892	+	Splice_Site	SNP	G	T	T	rs74781178		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:65472892G>T	uc001xic.1	-	4	452	c.282_splice	c.e4+1		CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|CHURC1-FNTB_uc001xia.3_Intron	NM_197957	NP_932061	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 6, mRNA.						transcription from RNA polymerase II promoter	MLL1 complex|cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		TTTTTTTTTTGCCACCATTTC	0.368000														49			7		3.10358e-05	3.12878e-05	1	1	0
CPD	1362	broad.mit.edu	37	17	28791722	28791722	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:28791722G>T	uc002hfb.2	+	20	4090	c.4033G>T	c.(4033-4035)Gaa>Taa	p.E1345*	CPD_uc010wbo.2_Nonsense_Mutation_p.E1098*|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	1345					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TGATGAGTATGAAGATGAAAT	0.428000														136			194		2.46588e-86	2.56937e-86	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058776	152058776	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:152058776C>T	uc001ezo.1	-	2	1447	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	461							calcium ion binding	p.G461E(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GACTGCTGTTCCTTCAAGTTC	0.458000														158			265		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95076517	95076517	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:95076517G>A	uc001kin.3	-	49	5775	c.5652C>T	c.(5650-5652)atC>atT	p.I1884I	MYOF_uc001kio.3_Silent_p.I1871I|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1884					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATATCTGAATGATCAGCCTGG	0.398000														33			5		0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129128529	129128529	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:129128529C>T	uc003iga.3	+	18	2669	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	LARP1B_uc003igc.3_Silent_p.F265F|LARP1B_uc010ioa.2_Non-coding_Transcript|LARP1B_uc003ige.3_Non-coding_Transcript|LARP1B_uc003igd.3_Non-coding_Transcript|LARP1B_uc003igf.3_Silent_p.F46F	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	846							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TAGAAGACTTCCGTGTTGATG	0.294000														39			47		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680060	100680060	+	Missense_Mutation	SNP	C	T	T	rs145956810	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:100680060C>T	uc003uxp.1	+	2	5416	c.5363C>T	c.(5362-5364)tCg>tTg	p.S1788L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1788	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S1788L(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCACTTCGTCTCCTACA	0.537000														330			526		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120387881	120387881	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:120387881G>A	uc003vjj.1	+	5	2827	c.1862G>A	c.(1861-1863)gGa>gAa	p.G621E		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	621					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GAGTACTCAGGAGGAAATATT	0.423000														26			47		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652936	121652936	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:121652936C>T	uc003vjy.3	+	11	4231	c.3836C>T	c.(3835-3837)tCc>tTc	p.S1279F	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1279					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGTGAAAGTTCCCACCAAGTG	0.418000														147			44		0	0	1	0	0
TADA1	117143	broad.mit.edu	37	1	166845465	166845465	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:166845465C>T	uc001gdw.3	-	0	190	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TADA1_uc009wve.2_Silent_p.A2A	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN	Homo sapiens transcriptional adaptor 1 (TADA1), mRNA.	2					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TCACAAAGGTCGCCATTGCTC	0.617000														18			5		0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770868	53770868	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:53770868C>T	uc010ydu.2	-	0	51	c.51G>A	c.(49-51)gtG>gtA	p.V17V		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	17					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CCAGGACTCCCACCACGGTCT	0.507000										HNSCC(26;0.072)				54			13		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178936336	178936336	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:178936336C>T	uc002ulq.3	-	0	1147	c.829G>A	c.(829-831)Gag>Aag	p.E277K	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	277	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ACCTGCACCTCATTTGAGTTC	0.527000									Primary Pigmented Nodular Adrenocortical Disease, Familial					103			57		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39637290	39637291	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:39637290_39637291CC>TT	uc002hws.3	-	0	102_103	c.59_60GG>AA	c.(58-60)ggg>gAA	p.G20E		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	20	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCCACTGGCCCCTCCTGGGCT	0.579000														55			41		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762529	43762529	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:43762529C>T	uc002owd.4	-	4	1167	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	PSG9_uc002owe.4_Silent_p.T263T|PSG9_uc010xwm.2_Silent_p.T263T|PSG9_uc002owf.4_Silent_p.T170T|PSG9_uc002owg.2_Silent_p.T263T	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	356	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTTAGATTCCGTGAAGCAGG	0.438000														227			70		0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65546386	65546386	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:65546386C>T	uc001ofo.4	-	0	1437	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	Homo sapiens adaptor protein 5 (DKFZp761E198), mRNA.	469							protein binding			lung(1)	1						TGGACACCACCACCTGCCGCA	0.602000														5			7		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881312	69881312	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:69881312C>T	uc001jnm.4	+	2	302	c.117C>T	c.(115-117)tcC>tcT	p.S39S	MYPN_uc001jnl.1_Silent_p.S39S|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Silent_p.S39S|MYPN_uc001jnp.1_Silent_p.S39S|MYPN_uc009xps.3_Silent_p.S39S|MYPN_uc009xpt.3_Silent_p.S39S|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	39	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGCCCTCCTCCAACCCTTGCC	0.512000														39			18		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473535	19473535	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:19473535G>A	uc003jgd.3	-	12	2707	c.2173C>T	c.(2173-2175)Cta>Tta	p.L725L	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Silent_p.L725L|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	725					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTAGGGTCTAGGTCTGCTTCT	0.493000														42			36		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	887663	887663	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:887663G>A	uc003gbm.4	-	8	1076	c.877_splice	c.e8+1	p.R293_splice	GAK_uc003gbn.4_Splice_Site_p.R214_splice|GAK_uc010ibk.1_Splice_Site_p.R187_splice|GAK_uc003gbl.4_Splice_Site_p.R157_splice	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	293	Protein kinase.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGACTTACGGATGAGGCTGT	0.627000														16			29		0	0	1	0	0
GTF2H4	2968	broad.mit.edu	37	6	30880155	30880155	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:30880155C>T	uc003nsa.1	+	10	1216	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	VARS2_uc003nsc.2_5'Flank|VARS2_uc003nsd.3_5'Flank|VARS2_uc011dmx.2_5'Flank|VARS2_uc011dmy.2_5'Flank|VARS2_uc011dmz.2_5'Flank|VARS2_uc011dna.2_5'Flank|VARS2_uc011dnb.2_5'Flank|VARS2_uc011dnc.2_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	337			R -> Q (in dbSNP:rs3218820).		mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GATGCTCTATCGGTTCCCCAA	0.597000								Nucleotide excision repair (NER)						62			19		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388965	48388965	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:48388965G>A	uc001jez.3	-	0	2027	c.1913C>T	c.(1912-1914)gCc>gTc	p.A638V		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	638	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)	CTCCACCAAGGCCCCCAGGCT	0.692000														14			8		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114123243	114123243	+	Silent	SNP	G	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:114123243G>T	uc001edk.3	+	2	694	c.513G>T	c.(511-513)ctG>ctT	p.L171L	MAGI3_uc001edh.3_Silent_p.L171L|MAGI3_uc001edi.4_Silent_p.L171L|MAGI3_uc010owm.2_Silent_p.L171L	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	171	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAAGCACTGGAAGAGAGTG	0.398000														67			88		1.7318e-42	1.79801e-42	1	1	0
POTEH	23784	broad.mit.edu	37	22	16279259	16279259	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:16279259G>A	uc010gqp.2	-	3	1016	c.964C>T	c.(964-966)Cag>Tag	p.Q322*	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Nonsense_Mutation_p.Q41*|POTEH_uc002zlj.1_Nonsense_Mutation_p.Q157*	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	322								p.K321K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACCACTTGCTGTTTTTGCTCA	0.323000														617			20		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17740063	17740063	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:17740063C>T	uc021uqk.1	-	30	3778	c.3736G>A	c.(3736-3738)Gag>Aag	p.E1246K		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1247					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTCTCCTTCTCCTTGGAGCAG	0.577000														9			5		0	0	1	0	0
NPIP	9284	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:15457701G>A	uc010bvf.1	-	8	812	c.812C>T	c.(811-813)gCt>gTt	p.A271V				Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	273	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000														54			3		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64677357	64677357	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:64677357G>A	uc001obx.3	-	13	2018	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	635							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCAGAGAGCCGAAATACCGTC	0.711000														14			17		0	0	1	0	0
FAM109A	144717	broad.mit.edu	37	12	111801266	111801266	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:111801266G>A	uc001tsc.3	-	2	69	c.34_splice	c.e2-1	p.A12_splice	FAM109A_uc021rdy.1_Splice_Site_p.A2_splice|FAM109A_uc001tsd.4_Splice_Site|FAM109A_uc009zvu.3_Splice_Site|FAM109A_uc021rdz.1_5'Flank	NM_144671	NP_653272	Q8N4B1	SESQ1_HUMAN	Homo sapiens family with sequence similarity 109, member A (FAM109A), transcript variant 2, mRNA.	198					endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						GGAGCCTGGGGCCTGGACCCC	0.637000														12			5		0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30436340	30436340	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:30436340G>A	uc002wwu.1	-	9	832	c.755C>T	c.(754-756)tCg>tTg	p.S252L	FOXS1_uc002wwt.1_5'Flank			Q9H1R2	DUS15_HUMAN	Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA.	252						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGTGCAGGACGAGCTCCCAGG	0.632000														12			9		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	369886	369886	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:369886C>T	uc003bot.3	+	4	876	c.234C>T	c.(232-234)ttC>ttT	p.F78F	CHL1_uc003bou.3_Silent_p.F78F|CHL1_uc003bow.2_Silent_p.F78F|CHL1_uc011asi.2_Silent_p.F78F	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	78	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTTTTATTTCACTGACCATC	0.363000														105			31		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21083628	21083628	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:21083628G>A	uc002zsz.4	-	38	4742	c.4481C>T	c.(4480-4482)cCc>cTc	p.P1494L	PI4KA_uc002zsy.4_Missense_Mutation_p.P304L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1494					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGCTAGGTAGGGAGAGATGCT	0.632000														21			10		0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44627781	44627781	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:44627781C>T	uc002ikn.1	+	10	4708	c.4705_splice	c.e10-1	p.L1569_splice	ARL17A_uc002iko.4_Intron|LRRC37A2_uc002ikq.1_Splice_Site_p.L530_splice|LRRC37A2_uc010dax.2_Splice_Site_p.L499_splice	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	Homo sapiens leucine rich repeat containing 37, member A2 (LRRC37A2), mRNA.	1569						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TTTTTTTTAGCTCAAAAAAGA	0.323000														244			11		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112622727	112622727	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:112622727G>A	uc021reb.1	-	60	10037	c.9641C>T	c.(9640-9642)cCc>cTc	p.P3214L		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.									p.T3213T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CATGTCCTCGGGCTTGCTGCC	0.657000														34			3		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41430275	41430275	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:41430275G>A	uc010ehg.1	+	0	106	c.98G>A	c.(97-99)gGg>gAg	p.G33E	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.G33E|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CTCCCACCAGGGCCCCGCCCT	0.582000														45			46		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240458174	240458174	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:240458174C>T	uc010pye.2	+	8	4443	c.4218C>T	c.(4216-4218)ctC>ctT	p.L1406L	FMN2_uc010pyd.2_Silent_p.L1402L|FMN2_uc010pyf.1_Silent_p.L48L|FMN2_uc010pyg.2_Intron	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1402	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTCAAGCTCTCTATGAGAATG	0.363000														48			79		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193200	152193200	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:152193200C>T	uc001ezt.1	-	2	981	c.905G>A	c.(904-906)gGa>gAa	p.G302E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	302					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)			CTGGCGAGATCCAGACCCTTG	0.602000														119			223		0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51455845	51455845	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:51455845G>A	uc002pue.3	-	2	287	c.69C>T	c.(67-69)gtC>gtT	p.V23V	KLK5_uc002puf.3_Silent_p.V23V|KLK5_uc002pug.3_Silent_p.V23V	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	23					epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGTTACCTGTGACCCCCAGAA	0.617000														30			7		0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74838089	74838089	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:74838089G>A	uc004air.3	+	6	869	c.660G>A	c.(658-660)gaG>gaA	p.E220E	GDA_uc011lse.2_Silent_p.E146E|GDA_uc004aiq.3_Silent_p.E220E|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Silent_p.E146E|GDA_uc004ais.3_Intron|GDA_uc004ait.1_Silent_p.E146E	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	220					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.S219T(1)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCTGCTCTGAGACTTTGATGG	0.418000														41			44		0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49357015	49357016	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:49357015_49357016CC>TT	uc002pkx.3	-	11	1800_1801	c.1249_1250GG>AA	c.(1249-1251)ggg>AAg	p.G417K	PLEKHA4_uc010eml.3_Missense_Mutation_p.G392K	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	417						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCAGGCCCTCCCGGGAGCCCCA	0.649000														10			13		0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023495	28023495	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:28023495C>T	uc001ity.4	-	4	953	c.728G>A	c.(727-729)gGa>gAa	p.G243E	MKX_uc001itx.4_Missense_Mutation_p.G243E	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	243					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CCTTGTTTTTCCCATCATGGT	0.448000														59			36		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54792317	54792317	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:54792317G>A	uc021smr.1	+	18	5095	c.5095G>A	c.(5095-5097)Gaa>Aaa	p.E1699K	UNC13C_uc021sms.1_Missense_Mutation_p.E1701K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1701	MHD1.				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)		AGATGAAAACGAAGATGTGTC	0.348000														14			20		0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4168039	4168039	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:4168039C>T	uc002wkp.2	+	7	1944	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	SMOX_uc010zqo.1_Silent_p.F475F|SMOX_uc002wkk.1_Silent_p.F528F|SMOX_uc002wkl.1_Silent_p.F498F|SMOX_uc002wkm.1_Silent_p.F551F|SMOX_uc002wkn.1_Silent_p.F186F|SMOX_uc002wko.1_Silent_p.F551F	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	551					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GAGACCTCTTCCAGCAGGGGA	0.632000														41			30		0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92361306	92361306	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:92361306C>T	uc010aue.3	-	5	1086	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	FBLN5_uc010aud.3_Missense_Mutation_p.G169S|FBLN5_uc001xzx.4_Missense_Mutation_p.G164S	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	164	EGF-like 3; calcium-binding (Potential).				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)				AAGCACTGGCCTTCCAGAAGC	0.562000														16			20		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932989	83932989	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:83932989G>A	uc002bjt.1	-	3	1102	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	BNC1_uc010uos.1_Silent_p.S326S	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	338					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGGCCTCAGGGGATAACTGTG	0.458000														47			43		0	0	1	0	0
HELT	391723	broad.mit.edu	37	4	185940986	185940986	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:185940986G>C	uc011ckq.2	+	2	473	c.473G>C	c.(472-474)gGa>gCa	p.G158A	HELT_uc011cko.2_Missense_Mutation_p.G73A|HELT_uc003ixa.3_Missense_Mutation_p.G73A|HELT_uc011ckp.1_Missense_Mutation_p.G17A	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	Homo sapiens helt bHLH transcription factor (HELT), mRNA.	158							DNA binding	p.R157R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTTCCCCGGGGAAGGGAAAAA	0.612000														18			4		0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33702164	33702164	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:33702164C>G	uc002num.2	-	6	1130	c.983G>C	c.(982-984)gGa>gCa	p.G328A	SLC7A10_uc002nul.2_Silent_p.R66R	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	328					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ATTGATCCCTCCGAAGGTTGA	0.592000														19			31		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1581131	1581131	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:1581131C>T	uc003wpl.3	+	4	1586	c.1489C>T	c.(1489-1491)Caa>Taa	p.Q497*	DLGAP2_uc003wpm.3_Nonsense_Mutation_p.Q497*	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	576					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCGAGCCATTCAAGCCGGCTA	0.537000														31			11		0	0	1	0	0
KHDC1L	100129128	broad.mit.edu	37	6	73934025	73934025	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:73934025G>A	uc003pgm.4	-	1	203	c.159C>T	c.(157-159)acC>acT	p.T53T	KHDC1_uc011dyl.1_Non-coding_Transcript	NM_001126063	NP_001119535	Q5JSQ8	KHDCL_HUMAN	Homo sapiens KH homology domain containing 1-like (KHDC1L), mRNA.	53										breast(1)|endometrium(1)|kidney(1)|lung(3)|skin(1)	7						GCTGAATAAGGGTGTGGCTGT	0.522000														1			6		0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80276127	80276127	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:80276127G>A	uc003uhc.3	+	5	755	c.71G>A	c.(70-72)gGt>gAt	p.G24D	CD36_uc011kgv.2_Intron|CD36_uc003uhd.4_Missense_Mutation_p.G24D|CD36_uc003uhe.4_Missense_Mutation_p.G24D|CD36_uc003uhf.4_Missense_Mutation_p.G24D|CD36_uc003uhg.4_Missense_Mutation_p.G24D|CD36_uc003uhh.4_Missense_Mutation_p.G24D|CD36_uc022agu.1_Missense_Mutation_p.G24D|CD36_uc022agv.1_Missense_Mutation_p.G24D	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	24					cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTGTTTGGAGGTATTCTAATG	0.438000														119			67		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583450	82583450	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:82583450G>A	uc003uhx.2	-	4	7108	c.6819C>T	c.(6817-6819)atC>atT	p.I2273I	PCLO_uc003uhv.2_Silent_p.I2273I|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2204					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						CAGATTCTATGATAGAAGATG	0.408000														89			119		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118997545	118997545	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:118997545C>T	uc004bjn.3	+	6	2742	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	PAPPA_uc011lxp.1_Silent_p.F482F|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	787					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.F787L(1)		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						AGCTGGAGTTCCTCTACCCCT	0.562000														45			32		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717407	222717407	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:222717407G>A	uc001hnh.1	-	1	504	c.446C>T	c.(445-447)tCc>tTc	p.S149F		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	149					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGTCAGCAGGGAAATGGCTGA	0.577000														73			127		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117252524	117252524	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:117252524C>T	uc003pxm.3	+	18	2705	c.2642C>T	c.(2641-2643)tCc>tTc	p.S881F		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	881					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ATTCCTTCTTCCTCATCCCAA	0.408000														124			25		0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325075	162325075	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:162325075G>A	uc001gbv.2	+	6	1081	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	NOS1AP_uc010pkr.1_Missense_Mutation_p.E227K|NOS1AP_uc001gbw.2_Missense_Mutation_p.E227K|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	232					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TGATGTCCTGGAATTCAGCCG	0.587000														123			39		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1235772	1235772	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:1235772G>A	uc003jby.2	+	3	739	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	206					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGAGACTACAGGGAAGGTGAG	0.572000														106			35		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38950164	38950164	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:38950164G>A	uc021yzh.1	+	85	12986	c.12877G>A	c.(12877-12879)Gaa>Aaa	p.E4293K	DNAH8_uc003ooe.2_Missense_Mutation_p.E4076K|DNAH8_uc003oog.1_Missense_Mutation_p.E525K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.E4076K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTCCCTACGAATTCAATTC	0.358000														91			66		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23287312	23287312	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:23287312G>A	uc001irm.4	+	10	1494	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	ARMC3_uc010qcv.2_Missense_Mutation_p.E471K|ARMC3_uc010qcw.2_Missense_Mutation_p.E208K	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	471							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						GTGTGACGTTGAAGCCCGGAC	0.458000														14			11		0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103008	55103008	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:55103008G>A	uc002lgo.3	+	0	92	c.60G>A	c.(58-60)atG>atA	p.M20I		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	20					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCTGCGCCATGAACCCGGAGC	0.741000														5			4		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53671347	53671347	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:53671347C>T	uc001sck.2	+	9	2270	c.2179C>T	c.(2179-2181)Cgt>Tgt	p.R727C	ESPL1_uc001scj.2_Missense_Mutation_p.R402C|ESPL1_uc010soe.1_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	727					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCAGGAAGATCGTTTCCTATA	0.502000														32			44		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28602372	28602372	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:28602372G>T	uc002kwj.4	-	6	1027	c.872C>A	c.(871-873)tCa>tAa	p.S291*	DSC3_uc002kwi.4_Nonsense_Mutation_p.S291*	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	291	Cadherin 2.				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)			GAGCCCAGGTGACCTTGGTGT	0.488000														48			42		2.26627e-22	2.33895e-22	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67129877	67129877	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:67129877G>A	uc002jhw.1	-	5	871	c.696C>T	c.(694-696)tcC>tcT	p.S232S		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	232					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATACAAGTGGGGAGAAATGAA	0.313000														86			25		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53686654	53686654	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:53686654C>T	uc001sck.2	+	29	6152	c.6061C>T	c.(6061-6063)Cgg>Tgg	p.R2021W	ESPL1_uc001scj.2_Missense_Mutation_p.R1696W|PFDN5_uc001scl.3_5'Flank|PFDN5_uc001scm.3_5'Flank|PFDN5_uc001scn.3_5'Flank|PFDN5_uc001sco.3_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	2021					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCTGAGCTGTCGGGCAGTGGC	0.617000														34			25		0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172533494	172533494	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:172533494C>T	uc003fii.2	+	21	2546	c.2408C>T	c.(2407-2409)tCa>tTa	p.S803L	ECT2_uc010hwv.1_Missense_Mutation_p.S834L|ECT2_uc003fih.2_Missense_Mutation_p.S802L|ECT2_uc003fij.1_Missense_Mutation_p.S803L|ECT2_uc003fik.1_Missense_Mutation_p.S803L|ECT2_uc003fil.1_Missense_Mutation_p.S834L|ECT2_uc003fim.1_Missense_Mutation_p.S102L	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	803					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.S803P(1)|p.T802P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAAGACTTCAAAAAAGGTG	0.299000														34			24		0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2061874	2061874	+	Missense_Mutation	SNP	G	A	A	rs145623669	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:2061874G>A	uc001qjx.1	-	6	1312	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	DCP1B_uc010sdy.1_Missense_Mutation_p.S309F	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	411					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGGTGGAAGGGAGCCATTGAA	0.567000														86			39		0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33438598	33438598	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:33438598C>A	uc003cfq.4	-	11	1740	c.1210G>T	c.(1210-1212)Gat>Tat	p.D404Y	FBXL2_uc011axr.1_Intron|FBXL2_uc011axq.1_Intron|UBP1_uc003cfr.4_Missense_Mutation_p.D368Y|UBP1_uc010hga.3_Missense_Mutation_p.D404Y	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	404					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGAACTAAATCCTCCTTTGTC	0.353000														42			20		8.34094e-07	8.42822e-07	1	1	0
FABP9	646480	broad.mit.edu	37	8	82370629	82370629	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:82370629C>T	uc011lfo.2	-	3	388	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	Homo sapiens fatty acid binding protein 9, testis (FABP9), mRNA.	130							lipid binding|transporter activity	p.E130K(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			CACACCTTTTCGTAGATTCTG	0.398000														50			17		0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101300387	101300387	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:101300387T>A	uc003yjj.1	-	2	333	c.16A>T	c.(16-18)Ata>Tta	p.I6L	RNF19A_uc003yjk.1_Missense_Mutation_p.I6L|RNF19A_uc003yjl.1_Missense_Mutation_p.I6L	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	6					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATAAAACCTATTTCTTGTTCT	0.353000														25			18		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884220	228884220	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:228884220G>A	uc002vpq.2	-	6	1397	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	SPHKAP_uc002vpp.2_Silent_p.I450I|SPHKAP_uc010zlx.1_Silent_p.I450I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	450						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)		GAACAACGACGATTTTGGGGA	0.498000														72			86		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	A	A	rs150688663	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:53856702G>A	uc010ydv.1	+	3	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_uc010ydw.1_Missense_Mutation_p.R925H	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(6)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000														53			4		0	0	1	0	0
MIR31	407035	broad.mit.edu	37	9	21512115	21512115	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:21512115G>A	uc011lnj.2	-	1		c.71_splice	c.e1+1		MIR31HG_uc003zpe.2_Intron					Homo sapiens microRNA 31 (MIR31), microRNA.																		TGTCAGACAGGAAAGATGGCA	0.502000														22			50		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157511279	157511279	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:157511279T>C	uc003qqp.3	+	13	3758	c.3758T>C	c.(3757-3759)aTg>aCg	p.M1253T	ARID1B_uc003qqo.3_Missense_Mutation_p.M1266T|ARID1B_uc003qqn.3_Missense_Mutation_p.M1306T	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1253					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCATGAGCATGCCCGATGTG	0.567000														118			9		0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117858	20117858	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:20117858C>T	uc002noq.3	-	3	576	c.453G>A	c.(451-453)gtG>gtA	p.V151V	ZNF682_uc002noo.3_Silent_p.V119V|ZNF682_uc002nop.3_Silent_p.V119V|ZNF682_uc010eck.3_Silent_p.V75V	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TAAAGACTTTCACACATTTAT	0.294000														25			22		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172099	81172099	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:81172099G>A	uc002bfw.1	+	3	544	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	KIAA1199_uc010unn.1_Missense_Mutation_p.R95Q	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	95	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATTGTTTTGCGAACCCGGCAC	0.498000														45			36		0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940247	36940247	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:36940247T>C	uc010xtf.2	-	4	1027	c.892A>G	c.(892-894)Aac>Gac	p.N298D	ZNF566_uc002oea.4_Missense_Mutation_p.N297D|ZNF566_uc010xte.2_Missense_Mutation_p.N297D|ZNF566_uc002oeb.4_Missense_Mutation_p.N297D|ZNF566_uc002oec.4_Missense_Mutation_p.N193D|ZNF566_uc010xtg.2_Missense_Mutation_p.N193D	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGAGTAAAGTTTGAGCCACTA	0.403000														79			23		0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967516	48967516	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:48967516C>T	uc002pje.1	+	2	1198	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	KCNJ14_uc002pjf.1_Missense_Mutation_p.R265C	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	265						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCACCGATCGTATCTTCCT	0.607000														20			15		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167659318	167659318	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:167659318A>T	uc001gem.3	+	3	418	c.231A>T	c.(229-231)aaA>aaT	p.K77N	RCSD1_uc010pli.2_Missense_Mutation_p.K47N	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	77										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					ACCCTCCTAAATTCAAGGTCA	0.433000														71			126		0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213178687	213178687	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:213178687G>A	uc001hjz.3	-	4	977	c.822C>T	c.(820-822)ttC>ttT	p.F274F	ANGEL2_uc010pto.2_Silent_p.F148F|ANGEL2_uc010ptp.2_Silent_p.F148F|ANGEL2_uc001hka.3_Silent_p.F105F|ANGEL2_uc010ptq.2_Non-coding_Transcript	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.	274										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TATCAGGGCGGAAGAATTCCA	0.433000														166			36		0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	37098619	37098619	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:37098619C>T	uc003aps.2	-	0	72	c.3G>A	c.(1-3)atG>atA	p.M1I	AK123632_uc003apt.1_5'Flank	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	1					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CAAACAGCCCCATAATTCTTC	0.428000														54			40		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10276209	10276209	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:10276209G>T	uc003bve.1	+	10	1415	c.1339G>T	c.(1339-1341)Gag>Tag	p.E447*		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	447	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GACGGGCGTGGAGAACGTGAT	0.612000														53			17		5.01169e-05	5.04654e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	8966751	8966751	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:8966751C>T	uc002mkp.3	-	80	43406	c.43202G>A	c.(43201-43203)aGa>aAa	p.R14401K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R1201K|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14499				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						TCTGTCTACTCTCCGAGCCAG	0.552000														0			2		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882709	228882709	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:228882709C>T	uc002vpq.2	-	6	2908	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	SPHKAP_uc002vpp.2_Missense_Mutation_p.G954E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G954E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	954						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)		GGGTTGTTTTCCACTGGAGTT	0.493000														139			54		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202235	39202235	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:39202235G>A	uc003jls.3	-	0	895	c.828C>T	c.(826-828)tcC>tcT	p.S276S	FYB_uc003jlt.3_Silent_p.S276S|FYB_uc003jlu.3_Silent_p.S276S|FYB_uc011cpl.2_Silent_p.S286S	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	276					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	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)			CACCATTTTTGGAGAGACCTG	0.463000														72			37		0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12937721	12937721	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:12937721G>A	uc004cvd.3	+	2	786	c.616G>A	c.(616-618)Gag>Aag	p.E206K	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.E188K	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	188					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAAAGTTTGCGAGAAAACTAA	0.348000														9			62		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045098	55045098	+	RNA	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:55045098C>T	uc010yfa.1	+	2		c.324C>T			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GAGTTGCACACTGGCCTTTCC	0.512000														20			25		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577848	9577848	+	Missense_Mutation	SNP	C	T	T	rs149138221		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:9577848C>T	uc002mlp.1	-	9	1985	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q	ZNF560_uc010dwr.1_Missense_Mutation_p.R486Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R592Q(4)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACTGTGTCTTCGTAAATGTTT	0.408000														101			95		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940171	113940171	+	Silent	SNP	C	T	T	rs139939908		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:113940171C>T	uc002tjc.3	+	1	321	c.138C>T	c.(136-138)ttC>ttT	p.F46F	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.F45F|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	46					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGAGCCTTTCGAGGAGCAAA	0.602000														50			37		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89918487	89918487	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:89918487G>A	uc003kju.3	+	4	623	c.527G>A	c.(526-528)gGa>gAa	p.G176E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	176					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.K175N(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGGAAAAGGGAACCTATGGA	0.368000														1			6		0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112545961	112545961	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:112545961G>A	uc003dzi.1	-	3	784	c.558C>T	c.(556-558)taC>taT	p.Y186Y	CD200R1L_uc010hqf.1_Silent_p.Y165Y|CD200R1L_uc011bhw.1_Silent_p.Y165Y	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	186	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CATTGCCCCAGTATTCTTGCT	0.522000														58			20		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104081986	104081986	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:104081986G>A	uc001tjw.3	+	27	3224	c.3038G>A	c.(3037-3039)tGg>tAg	p.W1013*		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1013	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTAACCGATGGATAAATGTG	0.373000														47			73		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40972550	40972550	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:40972550A>G	uc003jmh.3	+	14	2042	c.1928A>G	c.(1927-1929)cAc>cGc	p.H643R	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	643	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATACAGAGTCACCCCCAAAAA	0.443000														55			19		0	0	1	0	0
WDR26	80232	broad.mit.edu	37	1	224619204	224619204	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:224619204G>A	uc001hop.4	-	2	796	c.602C>T	c.(601-603)tCt>tTt	p.S201F	WDR26_uc001hoq.4_Intron|WDR26_uc021pjp.1_Intron|WDR26_uc009xei.2_Intron|WDR26_uc021pjt.1_Missense_Mutation_p.S201F	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	Homo sapiens WD repeat domain 26 (WDR26), transcript variant 1, mRNA.	201	CTLH.					cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CAACGTTTGAGAGATTTCAAG	0.353000														15			35		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699843	136699843	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:136699843G>A	uc003vtf.1	+	3	854	c.231G>A	c.(229-231)atG>atA	p.M77I	CHRM2_uc003vtg.1_Missense_Mutation_p.M77I|CHRM2_uc003vti.1_Missense_Mutation_p.M77I|CHRM2_uc003vtm.1_Missense_Mutation_p.M77I|CHRM2_uc003vtj.1_Missense_Mutation_p.M77I|CHRM2_uc003vtk.1_Missense_Mutation_p.M77I|CHRM2_uc003vtl.1_Missense_Mutation_p.M77I|CHRM2_uc003vtn.1_Missense_Mutation_p.M77I|CHRM2_uc003vto.1_Missense_Mutation_p.M77I|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.M77I	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	77					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TTTTCTCCATGAACTTGTACA	0.478000														118			196		0	0	1	0	0
POLR2C	5432	broad.mit.edu	37	16	57503880	57503880	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:57503880C>T	uc002elt.1	+	6	533	c.447C>T	c.(445-447)ctC>ctT	p.L149L		NM_032940	NP_116558	P19387	RPB3_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide C, 33kDa (POLR2C), mRNA.	149					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CAGACATCCTCATCGTCAAGT	0.542000														42			11		0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62500112	62500112	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:62500112T>C	uc010deh.2	-	3	473	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E	DDX5_uc002jek.2_Missense_Mutation_p.K144E|DDX5_uc002jej.2_Missense_Mutation_p.K39E|DDX5_uc010wqa.1_Intron|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	144	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GACAATGTTTTCCCAGATCCA	0.388000			T	ETV4	prostate									234			107		0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2637193	2637193	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:2637193C>A	uc002wgh.3	+	8	1286	c.1157C>A	c.(1156-1158)tCt>tAt	p.S386Y	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_Missense_Mutation_p.S220Y	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	386	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GATTGCTTCTCTGGTATGGGT	0.552000														42			32		1.08312e-15	1.11257e-15	1	1	0
HOXC12	3228	broad.mit.edu	37	12	54348889	54348889	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:54348889A>C	uc010soq.2	+	0	176	c.176A>C	c.(175-177)gAg>gCg	p.E59A		NM_173860	NP_776272	P31275	HXC12_HUMAN	Homo sapiens homeobox C12 (HOXC12), mRNA.	59					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CCGTCGGCGGAGCCGTGCAAT	0.706000														3			9		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912733	94912733	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:94912733C>T	uc001ydd.1	-	2	912	c.852G>A	c.(850-852)atG>atA	p.M284I		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	284					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CCACCTGCTTCATTTTCCCCG	0.552000														71			56		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2407648	2407648	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:2407648G>A	uc022brx.1	-	0	1113	c.1113C>T	c.(1111-1113)atC>atT	p.I371I	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.I371I|ZBED1_uc004cqg.2_Silent_p.I371I|ZBED1_uc022brw.1_Silent_p.I371I	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	371						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.V370I(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGACCCCGGCGATGACGAACT	0.652000														10			21		0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150443209	150443209	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:150443209G>A	uc003lti.3	-	2	477	c.236C>T	c.(235-237)tCc>tTc	p.S79F	TNIP1_uc010jhq.2_Missense_Mutation_p.S26F|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Missense_Mutation_p.S26F|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Missense_Mutation_p.S79F|TNIP1_uc010jhm.3_Missense_Mutation_p.S79F|TNIP1_uc010jhr.2_Missense_Mutation_p.S79F|TNIP1_uc011dco.2_Missense_Mutation_p.S79F|TNIP1_uc003ltg.3_Missense_Mutation_p.S26F|TNIP1_uc003ltk.3_Missense_Mutation_p.S79F|TNIP1_uc003ltj.3_Missense_Mutation_p.S79F|TNIP1_uc021ygb.1_Missense_Mutation_p.S79F|TNIP1_uc010jhs.2_Non-coding_Transcript	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	79					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGCCCAAGGAGGGAGAAGG	0.582000														37			10		0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67263784	67263784	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:67263784C>T	uc002esl.3	-	20	3436	c.3324G>A	c.(3322-3324)atG>atA	p.M1108I	LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|FHOD1_uc010ced.3_Missense_Mutation_p.M915I	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	1108					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)		CCAGAAGGTCCATGATCTCAT	0.572000														74			18		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090512	111090512	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrX:111090512C>T	uc004epl.1	-	5	2449	c.1530G>A	c.(1528-1530)ttG>ttA	p.L510L	TRPC5_uc004epm.1_Silent_p.L510L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	510					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCATGCGTCCCAAAGAGATCT	0.438000														7			77		0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1137238	1137238	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:1137238G>A	uc001qjb.2	+	1	410	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.E57K|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.E57K	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	57					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	p.M56V(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CCTTTCAATGGAAAATATACA	0.493000														65			27		0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37947259	37947259	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:37947259G>A	uc001cbb.4	+	3	791	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	214					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACACCATCACGACGCGTGGGT	0.587000														65			95		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67671543	67671543	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:67671543C>T	uc001xja.2	+	4	939	c.649C>T	c.(649-651)Ccg>Tcg	p.P217S	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	217										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CATCCTGACCCCGTACATGTA	0.498000														37			47		0	0	1	0	0
ILK	3611	broad.mit.edu	37	11	6629386	6629386	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:6629386A>G	uc001mee.3	+	2	335	c.200A>G	c.(199-201)gAt>gGt	p.D67G	ILK_uc001mef.3_Missense_Mutation_p.D67G|ILK_uc010rap.2_Intron|ILK_uc010raq.2_Missense_Mutation_p.D67G|ILK_uc001meh.3_Missense_Mutation_p.D67G	NM_001014794	NP_004508	Q13418	ILK_HUMAN	Homo sapiens integrin-linked kinase (ILK), transcript variant 2, mRNA.	67	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		AACCGTGGGGATGACACCCCC	0.557000														7			32		0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														27			4		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81700486	81700486	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:81700486C>T	uc001kbh.3	-	6	769	c.726G>A	c.(724-726)caG>caA	p.Q242Q		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	242					cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			AGAAAGCAGCCTGGAGGTGCT	0.522000														31			16		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690514	77690514	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:77690514C>T	uc003yau.2	+	3	3551	c.3164C>T	c.(3163-3165)aCc>aTc	p.T1055I	ZFHX4_uc003yaw.1_Missense_Mutation_p.T1029I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1029						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1055S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTGATTACACCACCAAGGTC	0.517000										HNSCC(33;0.089)				96			33		0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20142942	20142942	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:20142942A>T	uc003cbq.3	+	4	1279	c.833A>T	c.(832-834)tAc>tTc	p.Y278F		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	278					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						ATTTCTGGATACAAAGAGAAC	0.408000														90			19		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230883314	230883314	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:230883314C>T	uc001htz.1	+	0	185	c.72C>T	c.(70-72)tcC>tcT	p.S24S	CAPN9_uc009xfg.1_Silent_p.S24S|CAPN9_uc001hua.1_Silent_p.S24S	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	24					digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCACCCACTCCTCAGGCCAGA	0.617000														59			86		0	0	1	0	0
PECAM1	5175	broad.mit.edu	37	17	62399104	62399104	+	RNA	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:62399104G>A	uc002jef.2	-	1		c.2126C>T						P16284	PECA1_HUMAN	Homo sapiens platelet/endothelial cell adhesion molecule (PECAM1), mRNA.						cell adhesion|cell recognition|diapedesis|phagocytosis|platelet activation|platelet degranulation|signal transduction	cell junction|extracellular space|integral to membrane|platelet alpha granule membrane	protein binding							BRCA - Breast invasive adenocarcinoma(8;1.28e-12)			ctgggcaacagagcaagcccc	0.537000														9			5		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141731519	141731519	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:141731519C>T	uc003vwy.3	+	12	1564	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	504	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTATACCAATCCCAACTGTGC	0.358000														80			95		0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	19990917	19990917	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:19990917T>C	uc002noj.3	+	2	280	c.188T>C	c.(187-189)tTa>tCa	p.L63S	ZNF253_uc002nok.3_Intron|ZNF253_uc002nol.3_Intron	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	63	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAAAAACCTTTAACTATGGAA	0.378000														63			20		0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240961663	240961663	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:240961663C>G	uc010fzc.2	-	1	271	c.170G>C	c.(169-171)aGc>aCc	p.S57T	NDUFA10_uc002vyn.3_Missense_Mutation_p.S57T|NDUFA10_uc002vyo.2_Missense_Mutation_p.S57T|NDUFA10_uc002vyp.3_Missense_Mutation_p.S57T	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	57					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	TATCACTCTGCTGCGTTCTGT	0.398000														87			45		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|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	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				118			213		0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24588993	24588993	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:24588993G>A	uc001wlv.3	+	10	1260	c.980G>A	c.(979-981)gGa>gAa	p.G327E	DCAF11_uc001wlw.3_Missense_Mutation_p.G327E|DCAF11_uc001wlz.3_Missense_Mutation_p.G227E|DCAF11_uc001wly.3_Missense_Mutation_p.G283E|DCAF11_uc010tny.2_Missense_Mutation_p.G194E|DCAF11_uc001wmc.3_Missense_Mutation_p.G227E|DCAF11_uc001wmb.4_Missense_Mutation_p.G301E|DCAF11_uc001wma.4_Missense_Mutation_p.G327E	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	327						CUL4 RING ubiquitin ligase complex	protein binding										TTCTCTGGGGGAGATGATGCC	0.537000														18			23		0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17328564	17328564	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:17328564G>A	uc001baa.2	-	7	860	c.670C>T	c.(670-672)Ccg>Tcg	p.P224S	ATP13A2_uc001bac.2_Missense_Mutation_p.P219S|ATP13A2_uc001bab.2_Missense_Mutation_p.P219S|ATP13A2_uc009vpa.1_5'Flank|ATP13A2_uc001bad.1_5'Flank	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	224					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GACTTGACCGGTATGCTGATC	0.642000														26			4		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69640525	69640525	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:69640525G>A	uc010kak.3	+	2	1108	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	BAI3_uc003pev.4_Missense_Mutation_p.E278K	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	278					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)				GGTCCCTCAGGAACAAGCTGA	0.338000														19			30		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41744430	41744430	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:41744430C>T	uc010ehj.3	+	7	1240	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	AXL_uc010ehi.1_Silent_p.F350F|AXL_uc010ehk.3_Silent_p.F350F	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	350	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCCAGGCCTTCGTGCATTGGC	0.657000														29			13		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267496	1267496	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:1267496C>T	uc001lta.3	+	30	9445	c.9386C>T	c.(9385-9387)cCg>cTg	p.P3129L		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3129	17 X approximate tandem repeats, Ser/Thr- rich.|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)		TCCTCCACTCCGGGGACGACC	0.667000														26			64		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20493499	20493499	+	Silent	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:20493499T>C	uc003gpr.1	+	8	1095	c.891T>C	c.(889-891)aaT>aaC	p.N297N	SLIT2_uc003gps.1_Silent_p.N297N	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	297	LRRNT 2.				Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan 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						TCCCCACAAATCTTCCAGAGA	0.463000														98			33		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176696738	176696738	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:176696738C>T	uc003mfr.4	+	15	5577	c.5439C>T	c.(5437-5439)ttC>ttT	p.F1813F	NSD1_uc003mft.4_Silent_p.F1544F|NSD1_uc003mfs.1_Silent_p.F1710F|NSD1_uc011dfx.2_Silent_p.F1461F	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1813	PWWP 2.				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)		CCCGAGTCTTCCCTTACATGG	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				43			54		0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7060894	7060894	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:7060894G>A	uc001qsb.2	+	2	373	c.131_splice	c.e2+1	p.R44_splice	PTPN6_uc001qsa.1_Splice_Site_p.R46_splice|PTPN6_uc010sfr.1_Intron|PTPN6_uc009zfl.1_Splice_Site_p.R44_splice|PTPN6_uc010sfs.1_5'UTR	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	44	SH2 1.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CTCTCCGTCAGGTAGGTGGGC	0.642000														39			37		0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136437776	136437776	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:136437776C>T	uc002tuo.3	+	19	2606	c.2236C>T	c.(2236-2238)Cat>Tat	p.H746Y	R3HDM1_uc010fni.3_Missense_Mutation_p.H745Y|R3HDM1_uc002tup.3_Missense_Mutation_p.H691Y|R3HDM1_uc010zbh.2_Missense_Mutation_p.H494Y	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	746							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGGAATTCCCCATCAGACTTA	0.378000														132			58		0	0	1	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659497	63659497	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:63659497G>A	uc010lyq.1	+	3	412	c.280G>A	c.(280-282)Gat>Aat	p.D94N		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	94						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTAGGACACCGATCTAATGAC	0.448000														18			26		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79755596	79755596	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:79755596C>T	uc002bew.1	+	2	2561	c.2486C>T	c.(2485-2487)tCt>tTt	p.S829F	KIAA1024_uc010unk.1_Missense_Mutation_p.S829F	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	829						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGCCAACCTTCTTGGACCATT	0.627000														58			19		0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5108554	5108554	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:5108554C>T	uc010bud.3	-	3	804	c.567G>A	c.(565-567)aaG>aaA	p.K189K	ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Silent_p.K189K	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA.	189						extracellular region		p.K227K(2)|p.K189K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						AGCAGCCGGGCTTGGTCATGA	0.647000														10			17		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38216696	38216696	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:38216696G>A	uc002rqn.2	+	5	1464	c.1338G>A	c.(1336-1338)ttG>ttA	p.L446L	FAM82A1_uc002rqk.1_Silent_p.L123L|FAM82A1_uc002rql.3_Silent_p.L268L|FAM82A1_uc021vga.1_Silent_p.L268L|FAM82A1_uc002rqm.3_Silent_p.L123L	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	268						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						ATGCAGTTTTGTGTGGCTATG	0.323000														57			56		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160151730	160151730	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:160151730T>A	uc001fve.4	+	19	3357	c.2878T>A	c.(2878-2880)Tta>Ata	p.L960I	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.L463I|ATP1A4_uc001fvh.3_Missense_Mutation_p.L96I	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	960					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACAAAGTCTTAATATTTGG	0.527000														98			184		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49005893	49005894	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:49005893_49005894CC>TT	uc003gyv.3	+	6	1126_1127	c.944_945CC>TT	c.(943-945)acc>aTT	p.T315I	CWH43_uc011bzl.2_Missense_Mutation_p.T288I	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	315					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CCTGGGAAAACCATGACCATTG	0.455000														87			22		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545171	82545171	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:82545171C>T	uc003uhx.2	-	6	12420	c.12131G>A	c.(12130-12132)cGa>cAa	p.R4044Q	PCLO_uc003uhv.2_Missense_Mutation_p.R4044Q|PCLO_uc010lec.3_Missense_Mutation_p.R1009Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3975					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R4044Q(3)		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						GACATAATTTCGTGGAGTATG	0.408000														119			38		0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24601643	24601643	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:24601643G>A	uc001wmf.2	+	1	588	c.490G>A	c.(490-492)Gag>Aag	p.E164K		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 1 (FITM1), mRNA.	164					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane		p.H163Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCTGCTCCACGAGCTGCCTGA	0.687000														22			24		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170345817	170345817	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:170345817C>T	uc003mba.3	+	9	1197	c.1055C>T	c.(1054-1056)cCt>cTt	p.P352L	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	352					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGGAATATCCTGAAGTTATT	0.323000			T	TRD@	ALL									32			20		0	0	1	0	0
C10orf28	27291	broad.mit.edu	37	10	99968910	99968910	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:99968910C>T	uc001kox.4	+	4	1389	c.1039C>T	c.(1039-1041)Cac>Tac	p.H347Y	C10orf28_uc001kow.4_Missense_Mutation_p.H347Y|C10orf28_uc001koy.4_Missense_Mutation_p.H347Y|C10orf28_uc009xvx.3_Missense_Mutation_p.H347Y|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	347							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		ACATGTAAAGCACGAACCTCC	0.403000														177			18		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157773845	157773845	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:157773845T>C	uc001frg.3	-	2	222	c.109A>G	c.(109-111)Acg>Gcg	p.T37A	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Missense_Mutation_p.T37A|FCRL1_uc001fri.3_Missense_Mutation_p.T37A|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	37	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATCTTACACGTCAGGGTCACT	0.532000														154			30		0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102783210	102783210	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:102783210G>A	uc001ksn.3	-	3	775	c.525C>T	c.(523-525)tcC>tcT	p.S175S	PDZD7_uc021pxc.1_Silent_p.S175S|PDZD7_uc001kso.2_Silent_p.S175S	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	175						cilium|nucleus	protein binding	p.F174L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TCTTCTCCTTGGAGAACTTGA	0.622000														16			16		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891367	18891367	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:18891367C>T	uc001rdy.3	+	0	323	c.165C>T	c.(163-165)caC>caT	p.H55H	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	55					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCCACCAACACTGCCAAAAAT	0.453000														83			25		0	0	1	0	0
C2orf56	55471	broad.mit.edu	37	2	37471080	37471080	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:37471080G>A	uc002rqa.4	+	6	831	c.756G>A	c.(754-756)ttG>ttA	p.L252L	C2orf56_uc010ynj.1_Non-coding_Transcript|C2orf56_uc002rqc.4_Silent_p.L154L|C2orf56_uc010ynk.2_Silent_p.L181L|C2orf56_uc010ynl.2_Silent_p.L225L|C2orf56_uc010fah.3_Non-coding_Transcript	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	Homo sapiens chromosome 2 open reading frame 56 (C2orf56), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	252					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13		all_hematologic(82;0.21)				GGTTTGTTTTGGCACCTTCTG	0.363000														22			24		0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161920	43161920	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr21:43161920G>A	uc002yzn.1	-	7	1481	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	478						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTCTCCACGGCCATGTGCAA	0.642000														110			58		0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														9			5		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48379522	48379522	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:48379522G>A	uc001rqu.3	-	24	1850	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P488S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	557	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CGGGCTCCAGGAAGGCCAGGT	0.652000														14			12		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708285	152708285	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:152708285C>T	uc021zhb.1	-	51	8632	c.8409G>A	c.(8407-8409)aaG>aaA	p.K2803K	SYNE1_uc003qot.4_Silent_p.K2810K|SYNE1_uc003qou.4_Silent_p.K2803K|SYNE1_uc010kjb.1_Silent_p.K2786K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2803					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CATCCTCTGTCTTTTCGTAGA	0.463000										HNSCC(10;0.0054)				85			28		0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211652399	211652399	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:211652399G>A	uc001him.2	-	2	1731	c.567C>T	c.(565-567)ttC>ttT	p.F189F	RD3_uc001hin.2_Silent_p.F189F|RD3_uc009xda.2_Non-coding_Transcript	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	Homo sapiens retinal degeneration 3 (RD3), transcript variant 1, mRNA.	189					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TGGGCGCCCGGAATTCGGGCA	0.706000														8			16		0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156759009	156759009	+	Silent	SNP	C	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:156759009C>A	uc003wmy.3	+	7	2094	c.2079C>A	c.(2077-2079)ctC>ctA	p.L693L		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	693	MI.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTCACGTTCTCATGGATTGCT	0.418000														194			69		5.98616e-33	6.2076e-33	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176709237	176709237	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:176709237C>T	uc001gkz.3	+	13	5220	c.4056C>T	c.(4054-4056)atC>atT	p.I1352I	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1352					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						GGGTCGGCATCTCAGCTGTGG	0.517000														72			95		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20552029	20552029	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:20552029C>T	uc002dhj.4	-	13	1786	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	ACSM2B_uc002dhk.4_Missense_Mutation_p.E526K	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	526					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.K525N(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGCTGCAGCTCCTTGGTGAGC	0.488000														55			73		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128712782	128712782	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:128712782G>A	uc010fmd.2	-	15	2410	c.2278C>T	c.(2278-2280)Cca>Tca	p.P760S	SAP130_uc002tpn.2_Missense_Mutation_p.P485S|SAP130_uc002tpp.2_Missense_Mutation_p.P725S|SAP130_uc002tpq.1_Missense_Mutation_p.P733S	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	725	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATCATAGTTGGAATGGTCGGT	0.562000														55			46		0	0	1	0	0
DEFB121	245934	broad.mit.edu	37	20	29993946	29993946	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:29993946G>A	uc002wvv.2	-	0	124	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F	DEFB121_uc021wbq.1_Intron	NM_001011878	NP_001011878	Q5J5C9	DB121_HUMAN	Homo sapiens defensin, beta 121 (DEFB121), transcript variant 1, mRNA.	4					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCAGAAGAAGGAGCTTCATG	0.493000														35			14		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52511699	52511699	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr13:52511699G>A	uc001vfw.2	-	17	3973	c.3816C>T	c.(3814-3816)tcC>tcT	p.S1272S	ATP7B_uc001vfy.2_Silent_p.S1161S|ATP7B_uc010adv.2_Silent_p.S842S|ATP7B_uc001vfx.2_Silent_p.S1065S|ATP7B_uc010tgt.1_Silent_p.S1207S|ATP7B_uc010tgu.1_Silent_p.S1224S|ATP7B_uc010tgv.1_Silent_p.S1194S|ATP7B_uc001vfv.2_Silent_p.S544S|ATP7B_uc010tgs.1_Silent_p.S483S	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1272					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCAAGGCCGGGGAGTCATTGA	0.612000									Wilson disease					10			48		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48920047	48920047	+	Silent	SNP	C	T	T	rs139022158	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:48920047C>T	uc010slu.2	+	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F211F(4)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGGGAAACTTCCTTTTGGTCT	0.537000														74			24		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57372427	57372427	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:57372427C>T	uc001cyo.2	+	7	1316	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	395	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGAGGTTTATCAGGAGACCAT	0.423000														70			149		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066116	9066116	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:9066116G>A	uc002mkp.3	-	2	21534	c.21330C>T	c.(21328-21330)ccC>ccT	p.P7110P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7112	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						TGGAGGAAATGGGAGGAGGTG	0.517000														57			16		0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91365699	91365699	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:91365699G>A	uc001tbk.3	-	4	673	c.580C>T	c.(580-582)Cga>Tga	p.R194*		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	194					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.R194Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						ACAAGCTCTCGAAGTTGAGGC	0.373000														16			23		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152293789	152293789	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:152293789C>T	uc002txm.3	+	12	1568	c.1407C>T	c.(1405-1407)tcC>tcT	p.S469S	RIF1_uc010fnv.2_Silent_p.S433S|RIF1_uc002txn.3_Silent_p.S469S|RIF1_uc002txl.3_Silent_p.S469S|RIF1_uc002txo.3_Silent_p.S469S|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	469					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)		GCAGCCCTTCCTTTTTTTCCA	0.338000														105			50		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35044091	35044091	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:35044091G>A	uc003zvw.3	+	1	1494	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R	C9orf131_uc003zvu.3_Missense_Mutation_p.G441R|C9orf131_uc003zvv.3_Missense_Mutation_p.G416R|C9orf131_uc003zvx.3_Missense_Mutation_p.G454R	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	489										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGGCCCCCAGGGAGTCCTGTC	0.537000														24			68		0	0	1	0	0
ARF5	381	broad.mit.edu	37	7	127230119	127230119	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:127230119G>A	uc003vmb.2	+	4	406	c.259_splice	c.e4-1	p.G87_splice	ARF5_uc010llb.2_3'UTR|FSCN3_uc003vmc.1_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	Homo sapiens ADP-ribosylation factor 5 (ARF5), mRNA.	87					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TTCCTGCCCAGGGCCTCATCT	0.507000														103			55		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56904021	56904021	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:56904021C>T	uc002ekd.4	+	4	644	c.615C>T	c.(613-615)ttC>ttT	p.F205F	SLC12A3_uc010ccm.3_Silent_p.F205F|SLC12A3_uc010ccn.3_Silent_p.F204F	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	205					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCACCTACTTCCTCATCTCCC	0.627000														93			26		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944231	55944231	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:55944231C>T	uc010rjb.2	+	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TGGGCATGATCCTCTTAATCC	0.428000														52			112		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902328	23902328	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:23902328T>C	uc001wjx.3	-	3	416	c.310A>G	c.(310-312)Aac>Gac	p.N104D		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	104	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTTGAGGTTGTAGAGCACC	0.572000														26			25		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47320508	47320509	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr21:47320508_47320509GG>AA	uc010gqb.3	+	5	456_457	c.193_194GG>AA	c.(193-195)gga>AAa	p.G65K	PCBP3_uc002zhp.2_Missense_Mutation_p.G65K|PCBP3_uc010gqc.2_Missense_Mutation_p.G65K|PCBP3_uc002zhq.2_Missense_Mutation_p.G65K|PCBP3_uc002zhs.2_Missense_Mutation_p.G65K|PCBP3_uc002zht.2_Missense_Mutation_p.G33K	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	65	KH 1.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		ATTCCAGAAAGGAGAAACTGTG	0.614000														30			31		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76682337	76682337	+	RNA	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:76682337C>T	uc003ufy.2	+	4		c.2314C>T								Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) pseudogene (LOC100132832), non-coding RNA.																		AGAACTGGAACCGAAGTTTCT	0.592000														59			33		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50550613	50550613	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:50550613C>T	uc001zxz.3	-	2	648	c.306G>A	c.(304-306)ttG>ttA	p.L102L	HDC_uc010uff.2_Silent_p.L102L|HDC_uc010bet.2_Intron|HDC_uc010beu.2_Silent_p.L102L	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	102					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AGGTGAATCCCAAGCAGTTGA	0.542000														16			10		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118866328	118866328	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:118866328A>G	uc003ecb.1	+	0	1332	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.N431S	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	431										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TTCACCAGTAACTTCCAAGCA	0.443000														64			83		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155720261	155720261	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:155720261G>A	uc003ioo.3	+	3	1120	c.947G>A	c.(946-948)aGa>aAa	p.R316K	RBM46_uc011cim.1_Missense_Mutation_p.R316K|RBM46_uc003iop.1_Missense_Mutation_p.R316K	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	316							RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AACACTTGGAGACAGCATCTT	0.398000														70			16		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135439	126135439	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:126135439C>T	uc001uhe.1	+	6	1847	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	TMEM132B_uc001uhf.1_Silent_p.I125I	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	613						integral to membrane		p.I613I(2)		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)		AGCCGAAAATCGCTCAGTTAC	0.592000														38			11		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1098701	1098701	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:1098701C>T	uc001lsx.1	+	38	7086	c.7059C>T	c.(7057-7059)ttC>ttT	p.F2353F		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4719						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)	CCTGCGTGTTCGACAGCTGCT	0.647000														4			11		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79411977	79411977	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:79411977C>T	uc001diq.4	-	2	463	c.307G>A	c.(307-309)Gat>Aat	p.D103N		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	103	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACGGTTCCATCATTAGTGATA	0.358000														77			19		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43702385	43702385	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:43702385G>A	uc002ovy.3	-	2	575	c.473C>T	c.(472-474)cCc>cTc	p.P158L	PSG4_uc010xwk.1_5'UTR|PSG4_uc002ovz.3_Missense_Mutation_p.P158L|PSG4_uc002owb.3_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	158	Ig-like C2-type 1.				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)				GGCCTCCCTGGGATTTAAGTT	0.537000														83			127		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780157	91780157	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:91780157C>T	uc010aty.3	-	14	2157	c.2003G>A	c.(2002-2004)aGc>aAc	p.S668N		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	668					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CAGGCCCTGGCTCTCATGCTC	0.622000														11			10		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084082	31084082	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:31084082G>A	uc003nsm.2	-	1	1366	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	437	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						ACTGGATTGGGAACTGGAGCT	0.592000														21			5		0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005573	101005574	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:101005573_101005574GG>AA	uc010txa.2	-	5	660_661	c.514_515CC>TT	c.(514-516)ccg>TTg	p.P172L	BEGAIN_uc001yhp.3_Missense_Mutation_p.P108L|BEGAIN_uc001yhq.3_Missense_Mutation_p.P172L	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	172						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGCGTAGGCCGGGTGGCAGAGC	0.703000														19			4		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138587	126138587	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:126138587G>A	uc001uhe.1	+	8	2576	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G	TMEM132B_uc001uhf.1_Silent_p.G368G	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	856						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)		CCATGGAAGGGAAGAATAAGT	0.517000														20			42		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267489	71267489	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:71267489G>A	uc001xmm.3	-	1	715	c.715C>T	c.(715-717)Cca>Tca	p.P239S	MAP3K9_uc001xml.3_Missense_Mutation_p.P239S	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	239	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGGATGTCTGGGGGAATCCTT	0.502000														64			26		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262518	45262518	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:45262518C>T	uc003jok.3	-	7	2203	c.2178G>A	c.(2176-2178)caG>caA	p.Q726Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	726	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAGTGACAGCTGGGAGGCGG	0.657000														13			14		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100890919	100890919	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:100890919G>A	uc004aym.3	-	8	1166	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	CORO2A_uc004ayl.3_Silent_p.I350I|CORO2A_uc004ayk.3_5'Flank	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	350					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGATGGGCTCGATGAGGCTTT	0.592000														34			15		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885802	88885802	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:88885802G>A	uc003ydz.3	-	0	495	c.398C>T	c.(397-399)gCc>gTc	p.A133V		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	133										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						ATTCAGTGAGGCCCAGCACAT	0.562000														71			24		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69033271	69033271	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:69033271G>A	uc003xxv.1	+	29	3738	c.3711G>A	c.(3709-3711)agG>agA	p.R1237R		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1237					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R1237R(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACATCAGGAAATTTGTTG	0.403000														54			24		0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507867	219507867	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:219507867G>A	uc002vin.3	-	7	3808	c.3372C>T	c.(3370-3372)atC>atT	p.I1124I	ZNF142_uc002vil.3_Silent_p.I1085I|ZNF142_uc010fvt.3_Silent_p.I961I|ZNF142_uc002vim.3_Silent_p.I961I	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1124					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)		GGCAGCCCCGGATCTGGTGAG	0.612000														22			13		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280784	238280784	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:238280784C>T	uc002vwl.2	-	8	4161	c.3876G>A	c.(3874-3876)aaG>aaA	p.K1292K	COL6A3_uc002vwo.2_Silent_p.K1086K|COL6A3_uc010znj.1_Silent_p.K685K|COL6A3_uc002vwq.3_Silent_p.K1086K|COL6A3_uc002vwr.3_Silent_p.K885K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1292	Nonhelical region.|VWFA 7.				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)		GCACTTCATCCTTGCTGGAAT	0.592000														48			24		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239411	65239411	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:65239411C>T	uc001xht.3	-	24	5491	c.5440G>A	c.(5440-5442)Gac>Aac	p.D1814N	SPTB_uc001xhr.3_Missense_Mutation_p.D1814N|SPTB_uc001xhs.3_Missense_Mutation_p.D1814N|SPTB_uc001xhu.3_Missense_Mutation_p.D1814N|SPTB_uc010aqi.3_Missense_Mutation_p.D475N	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1814					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)		TGCTTCTCGTCGATGAGGCCC	0.662000														35			13		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96024952	96024952	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:96024952G>A	uc004ati.1	+	13	3361	c.3361_splice	c.e13-1	p.E1121_splice	WNK2_uc011lud.1_Splice_Site_p.E1121_splice|WNK2_uc004atj.3_Splice_Site_p.E1121_splice|WNK2_uc004atk.3_Splice_Site_p.E758_splice	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1121					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TTTATTTCAGGAGCAGGCCTC	0.642000														12			18		0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551716	125551716	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:125551716C>T	uc011lzd.2	+	0	505	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CCTCACCTTCCGCCTGAGCTT	0.562000														27			34		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967638	4967638	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:4967638G>A	uc010qys.2	-	0	693	c.693C>T	c.(691-693)tcC>tcT	p.S231S		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCCTTTTTGGATGCAATTC	0.453000														22			53		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53747042	53747042	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:53747042T>C	uc002qbg.1	-	3	275	c.124A>G	c.(124-126)Agg>Ggg	p.R42G	ZNF677_uc002qbf.1_Missense_Mutation_p.R42G|ZNF677_uc002qbh.3_Non-coding_Transcript	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGCAGGTTCCTGTAGTTCTCC	0.498000														78			28		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:16279248C>T	uc010gqp.2	-	3	1027	c.975G>A	c.(973-975)gtG>gtA	p.V325V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000														662			22		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541328	187541328	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:187541328T>A	uc003izf.3	-	9	6600	c.6412A>T	c.(6412-6414)Aaa>Taa	p.K2138*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2138	Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATTGCTTTTTCAGTGAAATT	0.428000										HNSCC(5;0.00058)				42			85		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95089969	95089969	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:95089969G>A	uc001ydp.3	+	4	1249	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	SERPINA3_uc001ydo.4_Missense_Mutation_p.D389N|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.D364N|SERPINA3_uc001yds.3_Missense_Mutation_p.D364N	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	364					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGCTGTGCTTGATGTATTTGA	0.522000														66			20		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105378050	105378050	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:105378050G>A	uc003dwc.3	-	18	3035	c.2713C>T	c.(2713-2715)Ccc>Tcc	p.P905S	CBLB_uc003dwa.3_Missense_Mutation_p.P120S|CBLB_uc011bhi.2_Missense_Mutation_p.P883S	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	905	Interaction with SH3KBP1.|Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GGTTTAGGGGGTCTGGCTGGT	0.433000			Mis S		AML									47			19		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880918	200880918	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:200880918C>T	uc001gvo.3	+	8	1594	c.1552C>T	c.(1552-1554)Ccg>Tcg	p.P518S	C1orf106_uc010ppm.2_Missense_Mutation_p.P433S	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	518										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TGGCTATTTCCCGGCGGGGCG	0.731000														41			8		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169423093	169423093	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:169423093C>T	uc003maf.3	+	29	3077	c.2997C>T	c.(2995-2997)gtC>gtT	p.V999V	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.V491V	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	999	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCCAGGGTCTTCCTGAGAG	0.458000														24			29		0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50683953	50683953	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:50683953G>A	uc003bkg.3	-	19	2366	c.1993C>T	c.(1993-1995)Cct>Tct	p.P665S	TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc010hav.3_Missense_Mutation_p.P645S|HDAC10_uc003bkh.3_Missense_Mutation_p.P458S|HDAC10_uc003bkj.3_Non-coding_Transcript	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	665					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		accaggtgaggatggcactac	0.672000														13			14		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348001	38348001	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:38348001C>T	uc003cib.2	+	0	557	c.484C>T	c.(484-486)Cct>Tct	p.P162S	SLC22A14_uc010hhc.1_Missense_Mutation_p.P162S|SLC22A14_uc003cia.2_Missense_Mutation_p.P162S|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	162						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)		GTGGATCTATCCTGACGCTAA	0.493000														71			28		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130762252	130762252	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:130762252G>A	uc003ysr.3	-	11	2079	c.1197C>T	c.(1195-1197)ctC>ctT	p.L399L		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	399						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TGGCTTCAAGGAGATAAAGAA	0.458000														24			9		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:123595133G>A	uc003vle.3	+	3	1476	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_uc011koa.1_Missense_Mutation_p.R2Q|SPAM1_uc003vld.3_Missense_Mutation_p.R346Q|SPAM1_uc022aks.1_Missense_Mutation_p.R346Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R346Q|SPAM1_uc010lku.3_Missense_Mutation_p.R346Q	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	346					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R346Q(3)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGTATAATGCGAAGTATGGTA	0.338000														84			130		0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14829380	14829380	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:14829380G>A	uc002mzn.3	+	11	1375	c.1241G>A	c.(1240-1242)aGa>aAa	p.R414K	ZNF333_uc002mzk.4_Missense_Mutation_p.R305K	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CGACACATGAGAACCCATACC	0.463000														44			32		0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862219	25862219	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:25862219G>A	uc003nfk.4	-	3	452	c.342C>T	c.(340-342)atC>atT	p.I114I	SLC17A3_uc003nfi.4_Intron|SLC17A3_uc011djz.1_Silent_p.I114I|SLC17A3_uc011dka.1_Intron	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	0					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CACCAAAGATGATGCCTTGGA	0.453000														14			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188763	140188763	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:140188763C>T	uc003lhi.2	+	0	2092	c.1991C>T	c.(1990-1992)aCt>aTt	p.T664I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.T664I|PCDHAC2_uc011daa.2_Missense_Mutation_p.T664I	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	675	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGGCCACTGTGCTGGTG	0.667000														77			24		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20611688	20611688	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:20611688G>A	uc003gpr.1	+	33	3949	c.3745G>A	c.(3745-3747)Gat>Aat	p.D1249N	SLIT2_uc003gps.1_Missense_Mutation_p.D1241N	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1249	Laminin G-like.				Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan 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						ACTTGCCTTGGATCAGAGTCT	0.408000														45			90		0	0	1	0	0
CCNJ	54619	broad.mit.edu	37	10	97817640	97817640	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:97817640C>T	uc010qoq.2	+	5	1153	c.794C>T	c.(793-795)cCt>cTt	p.P265L	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Missense_Mutation_p.P254L|CCNJ_uc001kln.3_Missense_Mutation_p.P253L	NM_001134375	NP_001127847	Q5T5M9	CCNJ_HUMAN	Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA.	254						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		CAAGCAGGACCTCAGTCAGCG	0.463000														60			25		0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156556460	156556460	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:156556460C>T	uc010lqn.3	-	5	668	c.453G>A	c.(451-453)ttG>ttA	p.L151L	LMBR1_uc003wmv.4_5'UTR|LMBR1_uc003wmw.4_Silent_p.L151L|LMBR1_uc003wmx.4_5'UTR|LMBR1_uc011kvx.2_Silent_p.L130L	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	151						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)		GAAGCATGACCAAAGTCTCTA	0.378000														65			90		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39127898	39127898	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:39127898G>A	uc003jls.3	-	9	1919	c.1852C>T	c.(1852-1854)Cca>Tca	p.P618S	FYB_uc003jlt.3_Missense_Mutation_p.P618S|FYB_uc003jlu.3_Missense_Mutation_p.P618S|FYB_uc011cpl.2_Missense_Mutation_p.P628S	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	618	Poly-Pro.				NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	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)			TCTGGTGGTGGAGGGAATATC	0.333000														21			6		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156934110	156934110	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:156934110G>A	uc003lwz.3	-	9	1023	c.944C>T	c.(943-945)cCc>cTc	p.P315L	ADAM19_uc003lww.2_Missense_Mutation_p.P48L|ADAM19_uc011ddr.1_Missense_Mutation_p.P246L	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	315	Peptidase M12B.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCCATGAGGGGGGCCAGGCC	0.617000														40			34		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071280	9071280	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:9071280G>A	uc002mkp.3	-	2	16370	c.16166C>T	c.(16165-16167)aCc>aTc	p.T5389I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5391	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						AGGTGAACTGGTTACAGACTC	0.512000														162			159		0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:155887393T>G	uc001fmi.1	-	10	1361	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000														47			8		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234580887	234580887	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:234580887C>G	uc002vus.3	+	0	344	c.307C>G	c.(307-309)Cga>Gga	p.R103G	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.R103G	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	103					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.D103N(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AGCACAAGTACGAAGTATATA	0.348000														88			84		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95994050	95994050	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:95994050C>T	uc001kjk.3	+	5	2829	c.2195C>T	c.(2194-2196)tCc>tTc	p.S732F	PLCE1_uc010qnx.2_Missense_Mutation_p.S732F|PLCE1_uc001kjm.3_Missense_Mutation_p.S424F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	732	Ras-GEF.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGGTACAATTCCCAAGAAGAA	0.532000														36			20		0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854808	79854808	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:79854808G>A	uc010jam.3	-	3	1381	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L	ANKRD34B_uc003kgw.3_Missense_Mutation_p.P344L|ANKRD34B_uc010jan.3_Missense_Mutation_p.P344L|ANKRD34B_uc021yax.1_Missense_Mutation_p.P344L	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	344						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GTTAGAATCTGGGTCCTGGTC	0.408000														55			20		0	0	1	0	0
QKI	9444	broad.mit.edu	37	6	163956050	163956050	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:163956050C>T	uc003qui.3	+	3	990	c.439C>T	c.(439-441)Cta>Tta	p.L147L	QKI_uc003quj.3_Silent_p.L147L|QKI_uc003quh.3_Silent_p.L147L|QKI_uc003que.3_Silent_p.L147L|QKI_uc003quf.3_Silent_p.L147L|QKI_uc003qug.3_Silent_p.L147L	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	147	KH.				RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TTGGGAGCATCTAAATGAAGA	0.343000														51			40		0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705292	101705292	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:101705292C>T	uc021oqt.1	+	0	752	c.752C>T	c.(751-753)tCg>tTg	p.S251L	S1PR1_uc001dud.2_Missense_Mutation_p.S251L|S1PR1_uc009weg.2_Missense_Mutation_p.S251L	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	251				KSL -> NV (in Ref. 1; AAA52336 and 2; AAC51905).	cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCTGAGAAGTCGCTGGCGCTG	0.582000														91			148		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220338490	220338490	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:220338490G>A	uc010fwg.3	+	17	4312	c.4312G>A	c.(4312-4314)Gag>Aag	p.E1438K		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1438	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGTGTGTACGAGCTGAGCCA	0.667000														100			86		0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45541995	45541995	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:45541995G>A	uc003cop.1	+	14	1869	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	LARS2_uc010hit.1_Missense_Mutation_p.E519K	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	562					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)	TGGAGGGAAAGAACATGCCGT	0.388000														43			60		0	0	1	0	0
PODNL1	79883	broad.mit.edu	37	19	14043567	14043567	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:14043567G>A	uc002mxr.3	-	7	1764	c.1490C>T	c.(1489-1491)cCa>cTa	p.P497L	PODNL1_uc010xni.2_Missense_Mutation_p.P415L|PODNL1_uc010xnj.2_Missense_Mutation_p.P495L|PODNL1_uc002mxs.3_Missense_Mutation_p.P406L	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	497						proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GCAGGGGGATGGAGGGGCCCT	0.592000														36			28		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100273819	100273819	+	RNA	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:100273819C>T	uc021xqi.1	-	0		c.99G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCTTACTTTTCCTGCTGTGCT	0.313000														107			26		0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23915669	23915669	+	Silent	SNP	C	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:23915669C>A	uc002zxd.3	-	2	544	c.426G>T	c.(424-426)ccG>ccT	p.P142P	IGLL1_uc002zxe.3_3'UTR	NM_020070	NP_064455	P15814	IGLL1_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA.	142	C region (By similarity to lambda light- chain).|Ig-like C1-type.		P -> L (in a patient with agammaglobulinemia; dbSNP:rs1064422).		immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TCAAGATTCCCGGATAAAAGT	0.582000														56			36		3.6622e-26	3.78413e-26	1	1	0
LPIN2	9663	broad.mit.edu	37	18	2940655	2940655	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:2940655G>A	uc002klo.3	-	4	885	c.646C>T	c.(646-648)Cat>Tat	p.H216Y		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	216					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TCCCCAGAATGGAAGAGCAAA	0.408000														38			29		0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95423537	95423537	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:95423537G>A	uc003ygk.3	-	3	442	c.311C>T	c.(310-312)tCg>tTg	p.S104L	RAD54B_uc010may.2_5'UTR|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.H103D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTAGGAGCCGAATGAACTAC	0.308000								Direct reversal of damage;Homologous recombination						19			43		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109265207	109265207	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:109265207G>A	uc001dvx.3	+	4	849	c.849G>A	c.(847-849)ctG>ctA	p.L283L	FNDC7_uc010ova.2_Silent_p.L50L	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	284	Fibronectin type-III 3.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CAATGACCCTGAAAACTGGTA	0.448000														63			10		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278979	152278979	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:152278979C>T	uc001ezu.1	-	2	8419	c.8383G>A	c.(8383-8385)Gga>Aga	p.G2795R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2795	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)			TGCCTTCCTCCTCTGCTTGAC	0.592000									Ichthyosis					548			99		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534972	96534972	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:96534972G>A	uc010qnz.2	+	1	326	c.326G>A	c.(325-327)gGa>gAa	p.G109E	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.G87E	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	109					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GCTAACAGAGGATTTGGTAGG	0.517000														56			23		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109755	43109755	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:43109755C>T	uc011dve.1	+	11	1921	c.1879C>T	c.(1879-1881)Ccc>Tcc	p.P627S	PTK7_uc003oub.1_Missense_Mutation_p.P619S|PTK7_uc003ouc.1_Missense_Mutation_p.P619S|PTK7_uc003oud.1_Missense_Mutation_p.P579S|PTK7_uc003oue.1_Missense_Mutation_p.P489S|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	619	Ig-like C2-type 7.				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)			CCAGGGGGACCCCAAGCCGCT	0.597000														24			23		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720490	95720490	+	Missense_Mutation	SNP	C	T	T	rs12570608	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:95720490C>T	uc009xuj.2	-	0	1183	c.664G>A	c.(664-666)Gag>Aag	p.E222K						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		AGAGGCTTCTCTCGCTCTTTC	0.453000														54			6		0	0	1	0	0
UTP11L	51118	broad.mit.edu	37	1	38489261	38489261	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:38489261C>T	uc001ccn.4	+	7	814	c.723C>T	c.(721-723)tcC>tcT	p.S241S	UTP11L_uc009vvm.3_Silent_p.S172S|UTP11L_uc010oil.2_Non-coding_Transcript|UTP11L_uc001cco.4_Silent_p.S172S	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN	Homo sapiens UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) (UTP11L), mRNA.	241				S -> F (in Ref. 2; AAF75562).	induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGGTGAACTCCCCAGCTATTT	0.348000														44			67		0	0	1	0	0
CELF1	10658	broad.mit.edu	37	11	47505053	47505053	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:47505053G>A	uc001nfp.3	-	7	960	c.558C>T	c.(556-558)gcC>gcT	p.A186A	CELF1_uc001nfl.3_Silent_p.A159A|CELF1_uc010rhm.2_Silent_p.A158A|CELF1_uc001nfm.3_Silent_p.A159A|CELF1_uc001nfk.2_Silent_p.A185A|CELF1_uc001nfn.3_Silent_p.A159A|CELF1_uc001nfr.1_Silent_p.A159A	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.	159	RRM 2.				RNA interference|embryo development|mRNA splice site selection|regulation of RNA splicing	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TCTGTGCCATGGCTCTTGTTG	0.458000														44			86		0	0	1	0	0
CSN3	1448	broad.mit.edu	37	4	71114847	71114847	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:71114847C>T	uc003hfe.4	+	3	278	c.220C>T	c.(220-222)Cca>Tca	p.P74S		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	74						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AATTAATAATCCATATGTGCC	0.433000														84			38		0	0	1	0	0
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308000														106			4		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5210798	5210798	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:5210798G>A	uc002mbv.3	-	33	5487	c.5253C>T	c.(5251-5253)atC>atT	p.I1751I	PTPRS_uc002mbu.1_Silent_p.I1320I|PTPRS_uc010xin.2_Silent_p.I1293I|PTPRS_uc002mbw.3_Silent_p.I1713I|PTPRS_uc002mbx.3_Silent_p.I1308I|PTPRS_uc002mby.3_Silent_p.I1304I	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1751	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCTGTGTCGCGATGTAGGCCT	0.652000														25			6		0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636175	42636175	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:42636175C>T	uc002igx.2	+	0	1364	c.1119C>T	c.(1117-1119)caC>caT	p.H373H		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	373					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.H373Y(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGTACTTCCACCTGGCCGCCT	0.657000														109			49		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88376924	88376924	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:88376924A>G	uc001tam.1	-	11	1343	c.1175T>C	c.(1174-1176)aTt>aCt	p.I392T		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	392								p.R391Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGAAAAAGGAATTCGTTTTCG	0.259000														78			31		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73748358	73748358	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:73748358G>A	uc002jpg.3	+	30	4084	c.3897G>A	c.(3895-3897)aaG>aaA	p.K1299K	ITGB4_uc002jph.3_Silent_p.K1299K|ITGB4_uc002jpi.4_Silent_p.K1299K|ITGB4_uc002jpj.3_Silent_p.K1299K	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1299	Fibronectin type-III 2.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACACGGTGAAGGCGCGCAACG	0.622000														155			71		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64605943	64605943	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:64605943C>T	uc001dbj.2	+	5	1161	c.762C>T	c.(760-762)atC>atT	p.I254I	ROR1_uc001dbi.4_Silent_p.I254I|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	254	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AATGTGAAATCCTGGAGAATG	0.488000														82			113		0	0	1	0	0
ABCA17P	650655	broad.mit.edu	37	16	2436231	2436232	+	RNA	DNP	GG	AA	AA			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:2436231_2436232GG>AA	uc002cqc.1	+	7		c.1486_1487GG>AA								Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene (ABCA17P), non-coding RNA.																		GCTCTCCATCGGCATCGCCCTC	0.653000														33			26		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258263	25258263	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:25258263G>A	uc002dod.4	-	4	1661	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	ZKSCAN2_uc010vcl.2_Silent_p.F214F|ZKSCAN2_uc002doe.2_Silent_p.F418F	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	418					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTCCTCAAAGAAGGCGCAGG	0.493000														134			52		0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35422879	35422879	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:35422879G>A	uc021wcx.1	-	13	3946	c.3606C>T	c.(3604-3606)tcC>tcT	p.S1202S	SOGA1_uc002xgd.1_Silent_p.S964S|SOGA1_uc021wcy.1_Silent_p.S93S	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	964								p.S1202S(4)|p.S964S(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCCCTGGCTCGGAGCTCACAA	0.607000														36			41		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754426	49754426	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:49754426C>T	uc003ozu.3	-	0	628	c.475G>A	c.(475-477)Gac>Aac	p.D159N		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	159					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)					ACATAGACGTCCCCTAGCTTG	0.483000														73			23		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480063	142480063	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:142480063C>A	uc011ksq.2	+	1	278	c.195C>A	c.(193-195)taC>taA	p.Y65*	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		GTCACTGCTACAAGCCGTAAG	0.567000														67			7		3.27435e-08	3.33577e-08	1	1	0
MYH2	4620	broad.mit.edu	37	17	10435170	10435170	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:10435170G>A	uc010coi.3	-	21	2605	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.S826F|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	826					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						ATTCATGAAGGATCTGATATT	0.433000														24			83		0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136500192	136500192	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:136500192G>A	uc003qgp.3	+	9	1164	c.861G>A	c.(859-861)caG>caA	p.Q287Q	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Silent_p.Q339Q	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	287	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.R286R(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	TCAACAGGCAGAATGAATTTT	0.423000														71			66		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148924004	148924004	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:148924004G>A	uc003ewy.4	-	5	1412	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.P168S|CP_uc003ewz.3_Missense_Mutation_p.P387S|CP_uc010hvf.1_Missense_Mutation_p.P113S	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	387	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.P387P(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATACCAGAGGGAGCATAGTTC	0.408000														60			62		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435715	158435715	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:158435715C>T	uc010pij.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(2)|p.D121N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GGGCTATGATCGCTATATGGC	0.527000														101			222		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108117950	108117950	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:108117950G>A	uc003dxa.1	-	34	5018	c.4961C>T	c.(4960-4962)tCc>tTc	p.S1654F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1654						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGGCCCAGGGATTTGGTTGC	0.468000														55			23		0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51937006	51937006	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:51937006C>T	uc003dbv.3	-	1	201	c.103G>A	c.(103-105)Gca>Aca	p.A35T	IQCF1_uc003dbq.4_Non-coding_Transcript	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	35										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTACCTCTGCCTTTGACTCT	0.488000														225			69		0	0	1	0	0
CYP2U1	113612	broad.mit.edu	37	4	108866410	108866410	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:108866410C>T	uc003hyp.3	+	1	858	c.775C>T	c.(775-777)Cta>Tta	p.L259L	CYP2U1_uc011cfi.2_Silent_p.L50L	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	259					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GTCACGAGGCCTAGAAATCTG	0.408000														158			31		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036450	21036450	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:21036450G>A	uc010sil.2	+	10	1661	c.1596G>A	c.(1594-1596)agG>agA	p.R532R	SLCO1B3_uc001rek.3_Silent_p.R532R|SLCO1B3_uc001rel.3_Silent_p.R532R|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTGTACAAGGAAATTTTTCA	0.373000														60			19		0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6969551	6969552	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:6969551_6969552CC>TT	uc001qri.4	+	10	1299_1300	c.1240_1241CC>TT	c.(1240-1242)cct>TTt	p.P414F	USP5_uc001qrh.4_Missense_Mutation_p.P414F	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	414					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGGCATTGCCCCTCGGATGTTC	0.574000														61			20		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125496	34125496	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:34125496G>A	uc011kap.2	+	13	1911	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	513	VWFD.				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						TGGTGGAGATGGAAACTTCAA	0.468000														58			77		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72026135	72026135	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:72026135C>T	uc001swo.2	-	14	3336	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	993					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						TTTTGTTGTTCCTTTGCTTTA	0.378000														103			114		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662995	40662995	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:40662995C>T	uc011aor.2	+	4	2972	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Nonsense_Mutation_p.R921*|TNRC6B_uc003ayo.3_Nonsense_Mutation_p.R725*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	921					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CCCAGCACCTCGAGAACCAAA	0.478000														20			6		0	0	1	0	0
FAM41C	284593	broad.mit.edu	37	1	809736	809736	+	RNA	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:809736C>T	uc001abt.4	-	1		c.857G>A								Homo sapiens family with sequence similarity 41, member C (FAM41C), non-coding RNA.																		CTAGAATTTTCCTTTTCTAGG	0.483000														158			59		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79755663	79755663	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:79755663G>A	uc002bew.1	+	3	2628	c.2553_splice	c.e3+1	p.Q851_splice	KIAA1024_uc010unk.1_Splice_Site_p.Q851_splice	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	851						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGGACCTGCAGGTGAGCCTCT	0.632000														33			13		0	0	1	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10224802	10224802	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:10224802G>A	uc002mnc.3	+	1	714	c.513G>A	c.(511-513)aaG>aaA	p.K171K	PPAN-P2RY11_uc002mna.3_Silent_p.K591K|PPAN-P2RY11_uc010xla.2_3'UTR	NM_002566	NP_002557	Q9NQ55	SSF1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 11 (P2RY11), mRNA.	0	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCCACCTGAAGAGGCCGCAGC	0.706000														20			19		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119301317	119301317	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:119301317C>T	uc003pyj.3	-	9	2635	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	FAM184A_uc003pyk.4_Missense_Mutation_p.E643K|FAM184A_uc003pyl.4_Missense_Mutation_p.E643K	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	763										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGCTCCTTTTCCTTTTCCTCT	0.318000														54			13		0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74605288	74605288	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:74605288G>A	uc002skx.3	-	1	436	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	DCTN1_uc002skw.2_Missense_Mutation_p.H40Y|DCTN1_uc010ffd.3_Missense_Mutation_p.H40Y|DCTN1_uc002sky.3_Missense_Mutation_p.H23Y	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	40					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTGCCTCGGTGGCCTTTTCCA	0.577000														48			41		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080287	1080287	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:1080287C>T	uc002lqz.1	+	13	1968	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	HMHA1_uc010xgd.1_Silent_p.F595F|HMHA1_uc010xge.1_Silent_p.F419F|HMHA1_uc002lra.1_Silent_p.F419F|HMHA1_uc002lrb.1_Silent_p.F462F|HMHA1_uc002lrc.1_Silent_p.F214F	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	579					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		AGAGCAGCTTCAACGTGAGTG	0.642000														54			49		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159847249	159847249	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:159847249G>A	uc001fui.3	-	8	1066	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Nonsense_Mutation_p.R265*|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Nonsense_Mutation_p.R336*	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	350						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGCTTCTCGAGCCTGCCGG	0.532000														176			43		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79360125	79360125	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:79360125G>A	uc003hlb.2	+	39	5876	c.5436G>A	c.(5434-5436)atG>atA	p.M1812I	FRAS1_uc003hkw.3_Missense_Mutation_p.M1812I|FRAS1_uc010ijj.2_Missense_Mutation_p.M232I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1811					cell communication	integral to membrane|plasma membrane	metal ion binding	p.M1812I(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTCTGACATGGACCACAACC	0.373000														193			54		0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399739	90399739	+	Missense_Mutation	SNP	C	T	T	rs11552246		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:90399739C>T	uc021opq.1	+	0	1112	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	LRRC8D_uc001dnm.3_Missense_Mutation_p.S371F|LRRC8D_uc001dnn.3_Missense_Mutation_p.S371F	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	371			S -> Y (in dbSNP:rs11552246).			integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGTTACATATCCATTATTTGT	0.388000														226			59		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74360014	74360014	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:74360014G>A	uc011lsa.1	-	3	1494	c.954C>T	c.(952-954)gcC>gcT	p.A318A	TMEM2_uc010mos.2_Silent_p.A318A|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	318						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GACTTTTAGCGGCTGAATCCC	0.507000														64			72		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371147	240371147	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:240371147C>T	uc010pye.2	+	5	3272	c.3047C>T	c.(3046-3048)cCc>cTc	p.P1016L	FMN2_uc010pyd.2_Missense_Mutation_p.P1012L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1012	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCCTCCTCCCCCTCTTCCC	0.741000														9			31		0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51143207	51143207	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:51143207C>T	uc003bne.1	+	15	1861	c.1861C>T	c.(1861-1863)Ccg>Tcg	p.P621S	SHANK3_uc003bnf.1_Missense_Mutation_p.P76S	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	621										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCCAGCCTTCCCGGCGCTGCA	0.677000														14			10		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160067535	160067535	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:160067535C>T	uc003lym.1	-	9	1780	c.933G>A	c.(931-933)cgG>cgA	p.R311R	ATP10B_uc003lyp.2_Silent_p.R311R|ATP10B_uc011deg.1_Silent_p.R355R|ATP10B_uc003lyo.2_Silent_p.R283R	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	311					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATTCATGCGCCGCTCAATCT	0.478000														125			37		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103289399	103289399	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:103289399A>G	uc003ykr.2	-	44	6765	c.6310T>C	c.(6310-6312)Tat>Cat	p.Y2104H	UBR5_uc003yks.2_Missense_Mutation_p.Y2104H	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2104					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	RNA binding|protein 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)			TTGGCAGCATAAGACATTTTT	0.348000														46			39		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018872	14018872	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:14018872C>T	uc001rbt.2	-	1	450	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	91					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATCTTCCGGTCAGACATGAGA	0.542000														48			56		0	0	1	0	0
KDELC2	143888	broad.mit.edu	37	11	108352044	108352044	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:108352044C>T	uc001pkj.2	-	4	1027	c.961G>A	c.(961-963)Gag>Aag	p.E321K	KDELC2_uc001pki.2_Missense_Mutation_p.E265K	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	321						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		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;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TGGAGCCTCTCCTCTCGGCTG	0.408000														30			71		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807605	143807605	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:143807605G>A	uc011ktz.2	+	0	930	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGAGGTCCATGAGAACGGTGT	0.428000														167			79		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812740	141812740	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:141812740C>T	uc002tvj.1	-	9	2469	c.1497G>A	c.(1495-1497)cgG>cgA	p.R499R	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	499					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCGACAAGTCCGAGTTTTGT	0.453000										TSP Lung(27;0.18)				61			28		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135983700	135983700	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:135983700G>A	uc004cco.3	-	5	892	c.872C>T	c.(871-873)cCg>cTg	p.P291L	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.P279L|RALGDS_uc004ccr.3_Missense_Mutation_p.P290L|RALGDS_uc011mcv.2_Missense_Mutation_p.P262L|RALGDS_uc004ccs.3_Missense_Mutation_p.P236L|RALGDS_uc011mcw.2_Missense_Mutation_p.P362L|RALGDS_uc004ccv.1_Missense_Mutation_p.P60L|RALGDS_uc004ccu.1_Missense_Mutation_p.P60L	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	291					Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ctctggctccggggctggagc	0.622000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									3			4		0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24735713	24735713	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:24735713G>A	uc001wof.3	-	14	1900	c.1478C>T	c.(1477-1479)gCc>gTc	p.A493V	RABGGTA_uc001wog.3_Missense_Mutation_p.A493V	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	493					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		ATTATCACTGGCCTGCAGCAC	0.622000														55			20		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124393438	124393438	+	Silent	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:124393438A>G	uc003ehg.3	+	48	7297	c.7170A>G	c.(7168-7170)gcA>gcG	p.A2390A	KALRN_uc003ehi.3_Silent_p.A730A|KALRN_uc003ehk.3_Silent_p.A693A|KALRN_uc011bjz.2_Silent_p.A481A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2389					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCACAGCAGCAGAAAGTAGTG	0.547000														13			4		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48379513	48379513	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:48379513G>A	uc001rqu.3	-	24	1859	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.R491W	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	560	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTACTTACCCGGGCTCCAGGA	0.662000														13			11		0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146032131	146032131	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:146032131C>T	uc003ijx.3	+	7	1065	c.625C>T	c.(625-627)Cta>Tta	p.L209L	ABCE1_uc003ijy.3_Silent_p.L209L|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	209	ABC transporter 1.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TTTAACCCACCTAAAAGAACG	0.373000														44			55		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36293084	36293084	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:36293084G>A	uc003oly.3	-	5	1322	c.1144C>T	c.(1144-1146)Ccg>Tcg	p.P382S		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	382										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTGTCCAGCGGAAGCTCCTCT	0.557000														19			26		0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2749389	2749389	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:2749389G>A	uc003mty.4	-	1	437	c.140C>T	c.(139-141)tCa>tTa	p.S47L		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	47							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCCAGATCTTGAATCCTGGTC	0.383000														79			63		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564887	58564887	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:58564887G>A	uc002qrc.1	+	5	942	c.695G>A	c.(694-696)gGg>gAg	p.G232E		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	232					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)		CGGGCAGAAGGGACTGTGATC	0.642000														22			35		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83239377	83239377	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:83239377C>T	uc003kio.1	-	10	1723	c.1304G>A	c.(1303-1305)gGa>gAa	p.G435E	EDIL3_uc003kip.1_Missense_Mutation_p.G425E	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	435	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTCAAAATTTCCCTGGAAAAC	0.398000														43			19		0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155015306	155015306	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:155015306G>A	uc001fgn.2	+	8	1102	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	DCST1_uc010per.2_Missense_Mutation_p.E355K|DCST1_uc010pes.2_Missense_Mutation_p.E305K	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	330						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTGGATGGGGAATTTTCAGC	0.547000														29			53		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102839170	102839170	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:102839170C>T	uc003hvy.4	+	6	1304	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	BANK1_uc003hvx.4_Missense_Mutation_p.P329S|BANK1_uc010ill.3_Missense_Mutation_p.P211S|BANK1_uc003hvz.4_Missense_Mutation_p.P314S	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	344					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)		CAAAGAACTTCCAACTCTTCT	0.358000														109			20		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73455258	73455258	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:73455258C>T	uc001jrx.4	+	20	2757	c.2367C>T	c.(2365-2367)acC>acT	p.T789T	CDH23_uc001jry.3_Silent_p.T789T|CDH23_uc001jrz.3_Silent_p.T789T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	791	Cadherin 8.				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						TGGAGATGACCCCTCCAGACT	0.592000														16			5		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61306490	61306490	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:61306490C>T	uc002ljf.3	-	6	783	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	SERPINB3_uc002lje.3_Missense_Mutation_p.E212K|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	233					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.E233K(1)|p.L232_Y236>H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TATGGTATTTCCAGGACCTTG	0.398000														101			44		0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61914986	61914986	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:61914986C>T	uc010deb.1	-	2	534	c.217_splice	c.e2-1	p.R73_splice	SMARCD2_uc010wpt.1_Splice_Site_p.R25_splice|SMARCD2_uc010dea.1_Splice_Site	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	73	Pro-rich.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TGCCAGGTCGCTGGGGGAAGT	0.667000														21			20		0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45668900	45668901	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:45668900_45668901CC>TT	uc001zvc.3	-	1	515_516	c.186_187GG>AA	c.(184-189)aaggac>aaAAac	p.D63N	GATM_uc001zvb.3_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.D116N|LOC145663_uc021sko.1_5'Flank	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	63					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	ACAGGGCAGTCCTTGGGCAGAG	0.569000														54			20		0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	431694	431694	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:431694T>G	uc001qif.1	-	16	2678	c.2315A>C	c.(2314-2316)gAt>gCt	p.D772A	KDM5A_uc010sdn.1_Missense_Mutation_p.D731A	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	772					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTATTTCCTATCCTCAGCATC	0.383000			T	NUP98	AML									116			40		0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45184548	45184548	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:45184548C>T	uc002ozo.4	+	5	1236	c.756C>T	c.(754-756)tcC>tcT	p.S252S	CEACAM19_uc002ozp.4_Silent_p.S252S	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	252						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				TCCTGGTGTCCCCCATCAGTG	0.602000														16			7		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275411	238275411	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:238275411C>T	uc002vwl.2	-	10	5704	c.5419G>A	c.(5419-5421)Gaa>Aaa	p.E1807K	COL6A3_uc002vwo.2_Missense_Mutation_p.E1601K|COL6A3_uc010znj.1_Missense_Mutation_p.E1200K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1807	Nonhelical region.|VWFA 9.				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)		TCGCTCAGTTCGGACAGCTCC	0.522000														131			61		0	0	1	0	0
PPP2R4	5524	broad.mit.edu	37	9	131885399	131885399	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:131885399C>T	uc004bxm.2	+	2	485	c.198C>T	c.(196-198)ttC>ttT	p.F66F	PPP2R4_uc004bxl.2_Silent_p.F66F|PPP2R4_uc011mbo.2_Silent_p.F66F|PPP2R4_uc010myr.2_Intron|PPP2R4_uc004bxn.2_Silent_p.F66F|PPP2R4_uc004bxo.2_Silent_p.F66F|PPP2R4_uc011mbp.2_Intron|PPP2R4_uc011mbq.1_Silent_p.F66F|PPP2R4_uc010mys.2_Silent_p.F31F	NM_178001	NP_821068	Q15257	PTPA_HUMAN	Homo sapiens protein phosphatase 2A activator, regulatory subunit 4 (PPP2R4), transcript variant 1, mRNA.	66					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		AGCTGACCTTCGAGTACAGAG	0.537000														62			68		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478641	85478641	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:85478641C>T	uc002blg.3	+	14	1675	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	SLC28A1_uc010bnb.3_Silent_p.I491I|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Silent_p.I491I|SLC28A1_uc010upg.1_Silent_p.I491I	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	491					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCTGGGGATCAAGCTGTTTC	0.597000														79			28		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103471393	103471393	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:103471393C>T	uc001dum.3	-	18	2199	c.1881_splice	c.e18+1	p.R627_splice	COL11A1_uc001duk.3_Splice_Site|COL11A1_uc001dul.3_Splice_Site_p.R615_splice|COL11A1_uc001dun.3_Splice_Site_p.R576_splice|COL11A1_uc009weh.3_Splice_Site_p.R499_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	615	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)		ATGTATCTTACCCTGTGACCT	0.338000														72			116		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548892	158548892	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:158548892G>A	uc010pin.2	-	0	798	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AACCAAAGTGGATTATAACCA	0.483000														209			51		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106989481	106989481	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:106989481C>T	uc003prh.3	+	7	4554	c.3642C>T	c.(3640-3642)ttC>ttT	p.F1214F	AIM1_uc003pri.3_Silent_p.F18F	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1214							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)		AAGTTGAATTCCCTACAGATC	0.264000														25			33		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140186775	140186775	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:140186775G>A	uc003lhi.2	+	0	104	c.3G>A	c.(1-3)atG>atA	p.M1I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.M1I|PCDHAC2_uc011daa.2_Missense_Mutation_p.M1I	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTAAAGATGGAGTTTTCCT	0.493000														65			60		0	0	1	0	0
LIPN	643418	broad.mit.edu	37	10	90524302	90524302	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:90524302G>A	uc010qmw.2	+	2	362	c.362G>A	c.(361-363)gGa>gAa	p.G121E		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	Homo sapiens lipase, family member N (LIPN), mRNA.	121					lipid catabolic process	extracellular region	hydrolase activity	p.R120W(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		AACAGTCGGGGAAACACTTGG	0.423000														25			19		0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223369	35223369	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:35223369C>T	uc001bxu.3	+	1	538	c.438C>T	c.(436-438)ctC>ctT	p.L146L	GJB5_uc021okz.1_Silent_p.L146L|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	146					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCGCCTTTCTCTATGTGTTCC	0.547000														109			36		0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70729523	70729523	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:70729523C>T	uc002ezm.3	-	16	2217	c.1959G>A	c.(1957-1959)ggG>ggA	p.G653G	VAC14_uc010cfw.3_Silent_p.G419G|VAC14_uc002ezn.3_Silent_p.G218G|VAC14_uc002ezl.3_Silent_p.G85G	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	653					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCTCCAGGTCCCCACTGGGTG	0.617000														36			13		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642884	1642884	+	Missense_Mutation	SNP	A	C	C	rs6578597	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:1642884A>C	uc009ycy.1	-	2	422	c.335T>G	c.(334-336)tTc>tGc	p.F112C	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	207	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G112V(3)|p.F147C(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCTGAAGAGAAGCAGCAGGG	0.632000														117			4		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68111238	68111238	+	Silent	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:68111238A>G	uc003xxo.2	-	38	5871	c.5481T>C	c.(5479-5481)ttT>ttC	p.F1827F	ARFGEF1_uc003xxl.1_Intron|ARFGEF1_uc003xxm.2_Silent_p.F230F|ARFGEF1_uc003xxn.2_Silent_p.F772F|ARFGEF1_uc003xxp.1_3'UTR	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1827					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CGATTCGCAGAAAAAATCTTC	0.358000														80			20		0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374515	180374516	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:180374515_180374516CC>TT	uc003mmp.3	+	3	911_912	c.677_678CC>TT	c.(676-678)acc>aTT	p.T226I	BTNL8_uc003mmq.3_Missense_Mutation_p.T226I|BTNL8_uc010jll.3_Missense_Mutation_p.T226I|BTNL8_uc011dhg.2_Missense_Mutation_p.T101I|BTNL8_uc010jlm.3_Missense_Mutation_p.T110I|BTNL8_uc011dhh.2_Missense_Mutation_p.T42I	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	226						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTTCAGATACCTTTTTCGAGC	0.401000														222			59		0	0	1	0	0
VPS37D	155382	broad.mit.edu	37	7	73085492	73085492	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:73085492C>T	uc003tyr.3	+	3	657	c.542C>T	c.(541-543)cCg>cTg	p.P181L		NM_001077621	NP_001071089	Q86XT2	VP37D_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog D (S. cerevisiae) (VPS37D), mRNA.	181	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCTGCCCAGCCGGCCCCCACC	0.741000														5			8		0	0	1	0	0
C11orf40	143501	broad.mit.edu	37	11	4594702	4594702	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:4594702C>T	uc010qyg.2	-	2	142	c.142_splice	c.e2-1	p.E48_splice		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	Homo sapiens chromosome 11 open reading frame 40 (C11orf40), mRNA.	48										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTGGATGTTTCCTATCAATGA	0.428000														11			25		0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2338753	2338753	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:2338753C>T	uc002lvs.3	+	3	452	c.372C>T	c.(370-372)gtC>gtT	p.V124V	SPPL2B_uc010dsw.1_Silent_p.V96V|SPPL2B_uc010dsy.1_Silent_p.V96V|SPPL2B_uc010dsz.1_Silent_p.V124V|SPPL2B_uc002lvr.3_Silent_p.V124V|SPPL2B_uc010dta.1_5'UTR|SPPL2B_uc002lvu.3_5'Flank	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	124	PA.					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		GCCCCCAGGTCCCCCCGGGGG	0.642000														11			15		0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377921	49377922	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:49377921_49377922CC>TT	uc002pky.4	+	1	1700_1701	c.1431_1432CC>TT	c.(1429-1434)gcccac>gcTTac	p.H478Y		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	478	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		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;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		ACCAGAGGGCCCACTTCAGGGG	0.569000														74			7		0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89920915	89920915	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:89920915C>T	uc002foz.1	+	4	799	c.747C>T	c.(745-747)ctC>ctT	p.L249L	SPIRE2_uc010civ.1_Silent_p.L164L|SPIRE2_uc010ciw.1_Silent_p.L249L|SPIRE2_uc002fpa.1_Silent_p.L201L|SPIRE2_uc010cix.1_Silent_p.L118L	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	249	WH2 1.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGGTTCAGCTCATGCGGGAGC	0.652000														25			23		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778008	31778008	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:31778008G>A	uc003nxh.3	-	1	1925	c.1742C>T	c.(1741-1743)tCg>tTg	p.S581L	HSPA1L_uc010jte.3_Missense_Mutation_p.S581L|HSPA1L_uc021yuz.1_Missense_Mutation_p.S581L	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	581					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						CTCCAGCCACGAAAGGAGCTC	0.388000														69			77		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413652	178413652	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:178413652G>A	uc003mjr.3	-	7	1782	c.1603C>T	c.(1603-1605)Ccc>Tcc	p.P535S	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.P118S|GRM6_uc003mjs.1_Missense_Mutation_p.P155S	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	535					detection of visible light|visual perception	integral to plasma membrane		p.P535S(2)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAACAGCAGGGGACGCCCTTC	0.682000														33			15		0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37866711	37866711	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:37866711C>T	uc002hso.3	+	6	1116	c.878C>T	c.(877-879)gCc>gTc	p.A293V	ERBB2_uc010cwa.3_Missense_Mutation_p.A278V|ERBB2_uc002hsm.3_Missense_Mutation_p.A263V|ERBB2_uc002hsp.3_Missense_Mutation_p.A96V|ERBB2_uc010cwb.3_Missense_Mutation_p.A293V|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Missense_Mutation_p.A263V|ERBB2_uc002hsn.1_Missense_Mutation_p.A293V	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	293					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACATTCGGCGCCAGCTGTGTG	0.552000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				35			30		0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91558423	91558423	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:91558423C>T	uc001tbt.3	-	2	537	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	DCN_uc001tbo.3_Intron|DCN_uc001tbp.3_Intron|DCN_uc001tbq.3_Missense_Mutation_p.E95K|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.E95K	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	95					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TCTTTGATTTCGGTTATTTTG	0.373000														28			22		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166852531	166852531	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:166852531G>A	uc002udo.4	-	25	4800	c.4573C>T	c.(4573-4575)Cga>Tga	p.R1525*	SCN1A_uc010fpk.3_Nonsense_Mutation_p.R1497*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.R1514*	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1525						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACTCCTGGTCGAGGTATAGGC	0.338000														67			31		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408560	40408560	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:40408560G>A	uc002omp.4	-	7	4287	c.4279C>T	c.(4279-4281)Ccc>Tcc	p.P1427S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1427	VWFD 3.					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)			GGCAGGCAGGGAGAGTCGGGC	0.627000														35			34		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83447552	83447552	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:83447552C>T	uc002bjd.2	-	5	1244	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	FSD2_uc010uol.1_Silent_p.V359V|FSD2_uc010uom.1_Silent_p.V359V	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	359										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCAGCTGCTCCACATCAGAGA	0.463000														15			15		0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198273222	198273222	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:198273222C>A	uc002uue.3	-	7	1036	c.988G>T	c.(988-990)Gga>Tga	p.G330*		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	330	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTACTGGCTCCAGGAGTCGGT	0.493000			Mis		myelodysplastic syndrome									71			44		9.84934e-19	1.01291e-18	1	1	0
COL2A1	1280	broad.mit.edu	37	12	48369378	48369378	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:48369378C>T	uc001rqu.3	-	50	3789	c.3608G>A	c.(3607-3609)gGa>gAa	p.G1203E	COL2A1_uc001rqt.3_5'UTR|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.G1134E	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1203	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.P1203T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCCAGGATTTCCAGGAGGACC	0.602000														16			6		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367319	234367319	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:234367319C>T	uc001hvy.1	+	2	585	c.440C>T	c.(439-441)tCc>tTc	p.S147F	SLC35F3_uc001hwa.1_Missense_Mutation_p.S78F	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	78					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGCGTGTGCTCCTCGTGGGCG	0.642000														127			49		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642357	156642357	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:156642357C>T	uc001fpq.3	-	3	1756	c.1623G>A	c.(1621-1623)ttG>ttA	p.L541L	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	541	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|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)					TTTCTTTTTCCAAAGGAACCT	0.458000														153			37		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617104	1617104	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:1617104G>A	uc002wfm.1	-	2	543	c.478C>T	c.(478-480)Cct>Tct	p.P160S	SIRPG_uc002wfn.1_Missense_Mutation_p.P160S|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	160	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding	p.P160T(2)|p.P160H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GTATGCTCAGGTGTGGTCCTC	0.512000														61			33		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:29628283G>C	uc010ztl.1	+	2	227	c.195G>C	c.(193-195)ggG>ggC	p.G65G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Silent_p.G17G					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.G95G(4)|p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000														135			5		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475859	120475859	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:120475859G>A	uc004bjz.3	+	2	1744	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	TLR4_uc004bkb.3_Missense_Mutation_p.E285K|TLR4_uc004bka.3_Missense_Mutation_p.E445K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	485					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTCTTTCCAGGAAAACTTCCT	0.448000														63			49		0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35577697	35577697	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:35577697C>T	uc001bym.3	+	8	1258	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	ZMYM1_uc001byn.3_Missense_Mutation_p.S371F|ZMYM1_uc010ohu.2_Missense_Mutation_p.S352F|ZMYM1_uc001byo.3_Missense_Mutation_p.S11F|ZMYM1_uc009vut.3_Missense_Mutation_p.S296F	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	371						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATACAGTTTCTTCAGTAACA	0.269000														37			70		0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151331022	151331022	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:151331022C>T	uc021zgs.1	+	20	2340	c.2196C>T	c.(2194-2196)tcC>tcT	p.S732S	MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Silent_p.S731S|MTHFD1L_uc021zgt.1_Silent_p.S666S|MTHFD1L_uc003qoc.3_Silent_p.S679S	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	731	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GCCGAGCTTCCGGCTTGGTGC	0.527000														91			24		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60511882	60511882	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:60511882G>A	uc002ybn.2	+	15	2720	c.2632G>A	c.(2632-2634)Ggc>Agc	p.G878S	CDH4_uc002ybr.2_Missense_Mutation_p.G841S|CDH4_uc002ybp.2_Missense_Mutation_p.G804S	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	878	Ser-rich.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTCCACCGCAGGCTCCGTCAG	0.627000														27			27		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345086	5345086	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:5345086G>A	uc001mao.1	-	0	497	c.442C>T	c.(442-444)Cta>Tta	p.L148L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	148					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)		AAACCCCTTAGAAACACTCCC	0.413000														37			87		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186048	101186048	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:101186048C>T	uc001dti.3	+	1	302	c.81C>T	c.(79-81)atC>atT	p.I27I	VCAM1_uc010ouj.2_Silent_p.I27I|VCAM1_uc001dtj.3_Silent_p.I27I	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	27	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.I27M(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTTTTAAAATCGAGACCACCC	0.408000														167			53		0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172803230	172803230	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:172803230C>T	uc002uhi.3	+	2	191	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C	HAT1_uc010fqi.2_5'UTR|HAT1_uc002uhj.3_Intron	NM_003642	NP_003633	O14929	HAT1_HUMAN	Homo sapiens histone acetyltransferase 1 (HAT1), transcript variant 1, mRNA.	39					DNA packaging|chromatin silencing at telomere	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGAAACAGTTCGTTTTCCTGA	0.313000														54			40		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33998784	33998784	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:33998784C>T	uc001bxm.1	-	63	10214	c.10037G>A	c.(10036-10038)gGg>gAg	p.G3346E	CSMD2_uc001bxn.1_Missense_Mutation_p.G3202E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3202						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)				ATCCAGGGCCCCGACGTTGGC	0.632000														15			20		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77685234	77685234	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:77685234G>A	uc001xtf.2	+	2	290	c.78G>A	c.(76-78)cgG>cgA	p.R26R	TMEM63C_uc010asq.1_Silent_p.R26R	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	26						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCCAGTCTCGGAACACCGTCC	0.602000														15			4		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582538	120582538	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:120582538G>A	uc001txo.3	-	40	5270	c.5257C>T	c.(5257-5259)Cga>Tga	p.R1753*		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1753					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.R1753R(2)		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)					TAGCCATCTCGGACATGGGGT	0.507000														88			90		0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27375019	27375019	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:27375019C>T	uc002don.3	+	10	2588	c.2346C>T	c.(2344-2346)ccC>ccT	p.P782P	IL4R_uc002dop.4_Silent_p.P767P|IL4R_uc010bxy.3_Silent_p.P782P|IL4R_uc002doo.3_Silent_p.P622P	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	782					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCCTGGCACCCTCGGGCATCT	0.607000														47			52		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86122	86122	+	RNA	SNP	G	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrGL000211.1:86122G>T	uc003bnz.1	+	5		c.870G>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GCTATGAAGAGTGCACACAGG	0.468000														7			3		0.115264	0.11553	1	1	0
IFNA14	3448	broad.mit.edu	37	9	21239422	21239422	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:21239422G>A	uc010mis.3	-	0	557	c.513C>T	c.(511-513)atC>atT	p.I171I	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	171					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGGATCTCATGATTTCTGCTC	0.393000														105			210		0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453192	195453192	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:195453192C>T	uc010hzo.3	+	2	1331	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	MUC20_uc010hzp.3_Missense_Mutation_p.S367F|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	573					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTGCTTCCTCCTACAGCCCC	0.587000														49			12		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60927133	60927133	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:60927133G>A	uc002ycq.3	-	4	757	c.690C>T	c.(688-690)atC>atT	p.I230I	LAMA5_uc021wfw.1_Silent_p.I230I	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	230	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGACACCACGATCTGTGGGC	0.657000														13			8		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	432672	432672	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:432672G>A	uc003bot.3	+	21	3263	c.2621G>A	c.(2620-2622)gGa>gAa	p.G874E	CHL1_uc003bou.3_Missense_Mutation_p.G858E|CHL1_uc003bow.2_Missense_Mutation_p.G858E|CHL1_uc011asi.2_Missense_Mutation_p.G874E	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	858	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.G874G(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGTTGGATGGAAGAACACAT	0.353000														73			22		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44053445	44053445	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:44053445G>A	uc001jaw.4	-	1	736	c.83C>T	c.(82-84)tCc>tTc	p.S28F	ZNF239_uc001jax.4_Missense_Mutation_p.S28F|ZNF239_uc009xmj.3_Missense_Mutation_p.S28F|ZNF239_uc009xmk.3_Missense_Mutation_p.S28F|ZNF239_uc021pph.1_Missense_Mutation_p.S28F	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTGACAAGGGGAAATATCTAG	0.443000														43			24		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125798077	125798077	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:125798077G>A	uc001lhn.3	-	4	1878	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	CHST15_uc001lhm.3_Nonsense_Mutation_p.Q382*|CHST15_uc010que.2_Nonsense_Mutation_p.Q382*|CHST15_uc001lho.3_Nonsense_Mutation_p.Q382*	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	382					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GCATTTGGCTGAAAGGCGTGG	0.512000														32			17		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026464	197026464	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:197026464C>T	uc001gtt.1	-	5	981	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	313	Sushi 5.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CAACGTATTTCTGCTGACCCA	0.363000														69			107		0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88898936	88898936	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:88898936C>T	uc001tav.3	-	9	1054	c.859_splice	c.e9+1		KITLG_uc009zsn.3_Splice_Site_p.W75_splice|KITLG_uc001taw.3_Splice_Site	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.						cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						AAAAACTTACCAATGTACGAA	0.308000									Testicular Cancer, Familial Clustering of					10			10		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428870	10428870	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:10428870C>T	uc010coi.3	-	31	4563	c.4435G>A	c.(4435-4437)Gag>Aag	p.E1479K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1479K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1479					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						GAACGGGCCTCCTTCTGGGAG	0.468000														19			47		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34046353	34046353	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:34046353C>T	uc001bxm.1	-	48	7564	c.7387_splice	c.e48+1	p.A2463_splice	CSMD2_uc001bxn.1_Splice_Site_p.A2465_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2465	CUB 14.					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)				TTTCACTCACCTGAATAGCGG	0.532000														66			17		0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117853250	117853250	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:117853250C>T	uc001lcj.3	-	7	1676	c.978G>A	c.(976-978)ttG>ttA	p.L326L	GFRA1_uc001lci.3_Silent_p.L321L|GFRA1_uc009xyr.3_Silent_p.L321L	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	326					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TCAAAAATTTCAAGCACTCTT	0.443000														35			20		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234358772	234358772	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:234358772G>A	uc002vui.1	+	15	2045	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H	DGKD_uc002vuj.1_Missense_Mutation_p.R634H|DGKD_uc010fyh.1_Missense_Mutation_p.R545H|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	678					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGGAGCCAGCGCAAAGGTACT	0.612000														44			3		0	0	1	0	0
TNFRSF14	8764	broad.mit.edu	37	1	2489859	2489859	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:2489859C>T	uc001ajr.3	+	2	555	c.256C>T	c.(256-258)Cac>Tac	p.H86Y	TNFRSF14_uc010nzc.1_Missense_Mutation_p.H86Y|TNFRSF14_uc009vlf.1_Missense_Mutation_p.H86Y|TNFRSF14_uc001ajt.1_5'UTR|LOC100133445_uc021oev.1_5'Flank	NM_003820	NP_003811	Q92956	TNR14_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 14 (TNFRSF14), mRNA.	86					T cell costimulation|immune response|interspecies interaction between organisms		tumor necrosis factor receptor activity			kidney(1)	1	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;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		CTACATTGCCCACCTCAATGG	0.627000			"""Mis, N, F"""		follicular lymphoma									173			55		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278098	36278098	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:36278098C>T	uc002obs.2	+	20	2292	c.2148C>T	c.(2146-2148)ccC>ccT	p.P716P	ARHGAP33_uc002obt.2_Silent_p.P741P|ARHGAP33_uc002obv.1_Silent_p.P465P	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	764					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CACTGCCACCCCCTCCCCTGT	0.662000														37			14		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98362136	98362136	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:98362136A>C	uc001kmq.3	-	15	2389	c.2261T>G	c.(2260-2262)gTt>gGt	p.V754G	PIK3AP1_uc001kmo.3_Missense_Mutation_p.V353G|PIK3AP1_uc001kmp.3_Missense_Mutation_p.V576G	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	754						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACTTCTGGTAACCTCAGGGAC	0.547000														32			8		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609896	117609896	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:117609896T>G	uc003pxp.1	-	42	7002	c.6803A>C	c.(6802-6804)aAc>aCc	p.N2268T	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2268					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCCTTCTCGGTTCTTCGTTTC	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									28			28		0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227843393	227843393	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:227843393G>A	uc021pjy.1	+	3	1783	c.1607G>A	c.(1606-1608)aGa>aAa	p.R536K	ZNF678_uc001hqw.2_Missense_Mutation_p.R481K|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	536					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CGTCATAAAAGAATTCATACT	0.353000														45			72		0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139739778	139739778	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:139739778C>T	uc011meh.2	+	0	912	c.912C>T	c.(910-912)gcC>gcT	p.A304A		NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	304	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						CCTTCGACGCCTACTACCCCA	0.667000														13			26		0	0	1	0	0
CCDC76	54482	broad.mit.edu	37	1	100613822	100613823	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:100613822_100613823GT>AA	uc001dsv.3	+	9	1209_1210	c.1190_1191GT>AA	c.(1189-1191)agt>aAA	p.S397K	CCDC76_uc010ouf.2_Non-coding_Transcript|CCDC76_uc009wea.3_Intron	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	397					tRNA processing		metal ion binding|methyltransferase activity	p.D396H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		AATGATGATAGTGAAGAGCATG	0.411000														251			82		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882456	167882456	+	Silent	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:167882456T>C	uc003lzu.3	+	18	2847	c.2754T>C	c.(2752-2754)ttT>ttC	p.F918F	WWC1_uc003lzv.3_Silent_p.F918F|WWC1_uc011den.2_Silent_p.F918F|WWC1_uc003lzw.3_Silent_p.F717F|WWC1_uc010jjf.1_Silent_p.F190F	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	918	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGGGGCCATTTCTTCGAGGGA	0.642000														60			92		0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72718005	72718005	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:72718005G>A	uc003txw.3	-	7	1040	c.963C>T	c.(961-963)ccC>ccT	p.P321P	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Silent_p.P321P|NSUN5_uc003txv.3_Silent_p.P321P|NSUN5_uc003txx.3_Silent_p.P283P	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	321							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TGCCTGCCCCGGGCTCCTCCA	0.612000														35			44		0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236433186	236433186	+	Missense_Mutation	SNP	G	A	A	rs142995196		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:236433186G>A	uc001hxt.3	-	1	467	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	ERO1LB_uc010pxt.1_Missense_Mutation_p.R71C	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	71					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	p.R71C(2)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TTGTAATAACGAAAATAGTCT	0.323000														55			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438160	179438160	+	Silent	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:179438160A>G	uc021vsy.1	-	274	65220	c.64995T>C	c.(64993-64995)acT>acC	p.T21665T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T15360T|TTN_uc021vta.1_Silent_p.T15293T|TTN_uc021vtb.1_Silent_p.T15168T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22592	Fibronectin type-III 57.						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)			CTTTAGTAATAGTTGTCACTT	0.458000														103			45		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20535283	20535283	+	Missense_Mutation	SNP	C	T	T	rs139887501		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:20535283C>T	uc003gpr.1	+	17	1981	c.1777C>T	c.(1777-1779)Cgt>Tgt	p.R593C	SLIT2_uc003gps.1_Missense_Mutation_p.R585C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	593					Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan 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						TACGAGTAATCGTTTGGAAAA	0.353000														141			27		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79782082	79782082	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:79782082G>A	uc001jzn.3	-	5	839	c.706C>T	c.(706-708)Cct>Tct	p.P236S		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	236					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.V235V(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGAAGTAGAGGAACATCTTCA	0.423000														41			22		0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94965318	94965318	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:94965318G>A	uc001tdj.2	-	3	1445	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	TMCC3_uc001tdi.2_Missense_Mutation_p.R412C	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	443						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATGTGGCAGCGACTCTTCATC	0.478000														54			66		0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241401698	241401698	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:241401698G>A	uc002vyw.4	+	2	637	c.416G>A	c.(415-417)aGg>aAg	p.R139K		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	139					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CAGAACGCGAGGGCCTTCCGG	0.672000														10			4		0	0	1	0	0
SUDS3	64426	broad.mit.edu	37	12	118827743	118827743	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:118827743C>T	uc001twz.3	+	4	491	c.352C>T	c.(352-354)Cag>Tag	p.Q118*		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	Homo sapiens suppressor of defective silencing 3 homolog (S. cerevisiae) (SUDS3), mRNA.	118					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCTTCCTCCAGCTGGAAGT	0.448000														18			18		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279029	36279029	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:36279029T>G	uc002obs.2	+	20	3223	c.3079T>G	c.(3079-3081)Tcc>Gcc	p.S1027A	ARHGAP33_uc002obt.2_Missense_Mutation_p.S1024A|ARHGAP33_uc002obv.1_Missense_Mutation_p.S776A	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1188					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTCCTCCTCTTCCCCTCCTGC	0.687000														26			20		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61802478	61802478	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:61802478G>A	uc001jky.3	-	42	13443	c.13105C>T	c.(13105-13107)Cgg>Tgg	p.R4369W	ANK3_uc001jkw.3_Missense_Mutation_p.R993W|ANK3_uc009xpa.3_Missense_Mutation_p.R992W|ANK3_uc001jkx.3_Missense_Mutation_p.R1036W|ANK3_uc010qih.2_Missense_Mutation_p.R1860W|ANK3_uc001jkz.4_Missense_Mutation_p.R1853W|ANK3_uc001jkv.3_Missense_Mutation_p.R392W	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4369					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						TCCACATGCCGGATTTCTTTC	0.398000														52			35		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:44083357C>T	uc003bdy.2	-	10	1450	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_uc003bdz.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.R376K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000														35			9		0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1538236	1538236	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:1538236C>T	uc002wfi.3	-	0	108	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	22						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CCTGCCAGTTCAAGCAGCAGA	0.542000														51			38		0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35435701	35435701	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:35435701C>T	uc010edq.1	+	4	2212	c.1834C>T	c.(1834-1836)Ctt>Ttt	p.L612F	ZNF30_uc002nxf.2_Missense_Mutation_p.L530F|ZNF30_uc010edp.1_Missense_Mutation_p.L611F|ZNF30_uc010edr.1_Missense_Mutation_p.L612F	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CAGTTCAGCCCTTAAAGTGCA	0.423000														16			20		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834035	61834035	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:61834035C>T	uc001jky.3	-	36	6942	c.6604G>A	c.(6604-6606)Gaa>Aaa	p.E2202K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2202					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						GGTTCCAATTCCATAAAAGTA	0.443000														58			34		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32118303	32118303	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:32118303C>T	uc001btk.1	-	70	5129	c.4764G>A	c.(4762-4764)ccG>ccA	p.P1588P	COL16A1_uc001btj.1_Silent_p.P1386P	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1588	Nonhelical region 1 (NC1).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCTGCTCCATCGGCATGGCCC	0.597000														57			16		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9404437	9404437	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:9404437G>A	uc021wam.1	+	23	2341	c.2326G>A	c.(2326-2328)Gat>Aat	p.D776N	PLCB4_uc010gbw.1_Missense_Mutation_p.D776N|PLCB4_uc010gbx.3_Missense_Mutation_p.D788N|PLCB4_uc021wal.1_Missense_Mutation_p.D776N|PLCB4_uc002wnh.3_Missense_Mutation_p.D623N	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	776	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGCTGTGTATGATGATAACAA	0.483000														27			16		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41155106	41155106	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:41155106C>T	uc003jmk.2	-	13	2279	c.2069G>A	c.(2068-2070)gGg>gAg	p.G690E	C6_uc003jml.1_Missense_Mutation_p.G690E	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	690	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G690W(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTCCAGGTCCCGTCTGGTAA	0.408000														36			47		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890188	51890188	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:51890188C>T	uc003pah.1	-	31	4696	c.4420G>A	c.(4420-4422)Ggg>Agg	p.G1474R	PKHD1_uc003pai.3_Missense_Mutation_p.G1474R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1474	IPT/TIG 9.				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)					GTGCAATTCCCCTGACACTCG	0.542000														27			36		0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130155408	130155408	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:130155408C>T	uc011mae.2	+	27	3318	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S	GARNL3_uc011mad.2_Missense_Mutation_p.P951S|GARNL3_uc010mxi.3_Missense_Mutation_p.P203S	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	973					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CGAAGCCAACCCTGAGGGGCA	0.582000														63			25		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262407	45262407	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:45262407C>T	uc003jok.3	-	7	2314	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	763						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652000														25			22		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218975	49218975	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:49218975G>A	uc010zyt.2	-	12	1544	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.F427F|FAM65C_uc002xvn.1_Silent_p.F427F	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	427										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						TCAAGGGCAGGAAGCCCACAT	0.647000														52			30		0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109719395	109719395	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:109719395G>A	uc001toe.4	-	8	1216	c.1111C>T	c.(1111-1113)Ctt>Ttt	p.L371F	FOXN4_uc009zvg.3_Missense_Mutation_p.L168F|FOXN4_uc001tof.4_Missense_Mutation_p.L191F	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	371					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						TCTGGAGCAAGATGTGCCTGG	0.701000														14			5		0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97869045	97869045	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:97869045G>A	uc003dsg.1	+	0	816	c.816G>A	c.(814-816)atG>atA	p.M272I		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCAAGATATGATGGAGTCTC	0.418000														22			18		0	0	1	0	0
GNB2L1	10399	broad.mit.edu	37	5	180665143	180665143	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:180665143G>A	uc003mni.1	-	5	839	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	GNB2L1_uc003mnj.1_Missense_Mutation_p.R199C	NM_006098	NP_006089	P63244	GBLP_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 (GNB2L1), mRNA.	245					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|positive regulation of GTPase activity|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	SH2 domain binding|ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AGCCAGTAGCGGTTAGGGCTG	0.562000														47			42		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134664680	134664681	+	Silent	DNP	GG	AA	AA			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:134664680_134664681GG>AA	uc021qbc.1	-	39	5804_5805	c.5703_5704CC>TT	c.(5701-5706)tccctg>tcTTtg	p.1901_1902SL>SL		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	62										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AGCTTCTCCAGGGACCCCTGCT	0.624000														32			12		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156810788	156810788	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:156810788G>A	uc010pht.2	-	21	4070	c.3771C>T	c.(3769-3771)ctC>ctT	p.L1257L	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1257					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTAGAAGGAGAGGAGGCGGA	0.647000														17			5		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377029	77377029	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:77377029G>A	uc004ajl.1	-	25	4796	c.4558C>T	c.(4558-4560)Cag>Tag	p.Q1520*	TRPM6_uc004ajk.1_Nonsense_Mutation_p.Q1515*|TRPM6_uc022bib.1_Nonsense_Mutation_p.Q1515*|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Nonsense_Mutation_p.Q476*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1520					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q1520K(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTGTTTGGCTGAAGCCATGGT	0.488000														70			29		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801748	39801748	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:39801748C>T	uc021olw.1	+	0	4808	c.4808C>T	c.(4807-4809)tCc>tTc	p.S1603F	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3168					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.S1603Y(2)		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)			CATCAAATTTCCTCATCTAAT	0.378000														130			39		0	0	1	0	0
FOXF1	2294	broad.mit.edu	37	16	86546549	86546549	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:86546549C>T	uc002fjl.3	+	1	1041	c.998C>T	c.(997-999)tCg>tTg	p.S333L		NM_001451	NP_001442	Q12946	FOXF1_HUMAN	Homo sapiens forkhead box F1 (FOXF1), mRNA.	333					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CGGTATCACTCGCAGTCGCCC	0.617000														58			13		0	0	1	0	0
PSMB7	5695	broad.mit.edu	37	9	127177167	127177167	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:127177167G>A	uc004boj.3	-	1	127	c.110C>T	c.(109-111)cCa>cTa	p.P37L	PSMB7_uc010mwm.3_Missense_Mutation_p.P37L	NM_002799	NP_002790	Q99436	PSB7_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 7 (PSMB7), mRNA.	37					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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|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|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CCGGACCTTTGGAAGCTTGTA	0.517000														40			8		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692276	12692276	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:12692276G>A	uc002mtz.2	-	4	742	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGGAGCTGCGAGTGAAGGTT	0.423000														74			69		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201294	166201294	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:166201294C>T	uc002udc.3	+	15	3082	c.2792C>T	c.(2791-2793)tCc>tTc	p.S931F	SCN2A_uc002udd.3_Missense_Mutation_p.S931F|SCN2A_uc002ude.3_Missense_Mutation_p.S931F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	931					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTTTTCCACTCCTTCCTGATC	0.502000														180			84		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36006465	36006465	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr13:36006465G>A	uc021rid.1	+	38	6773	c.6239G>A	c.(6238-6240)cGa>cAa	p.R2080Q	NBEA_uc021ric.1_Missense_Mutation_p.R2077Q|NBEA_uc010abi.3_Missense_Mutation_p.R736Q	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2080						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.R2080*(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CGAAGGAGACGATTTGTTCGC	0.393000														6			8		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947448	165947448	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:165947448C>T	uc002ucx.3	-	27	5707	c.5215G>A	c.(5215-5217)Gga>Aga	p.G1739R	SCN3A_uc010zcy.2_Missense_Mutation_p.G222R|SCN3A_uc002ucy.3_Missense_Mutation_p.G1690R|SCN3A_uc002ucz.3_Missense_Mutation_p.G1690R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1739						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1739R(2)		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)	CCACAGTCTCCCTTAACTGAG	0.483000														233			23		0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23915667	23915667	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr22:23915667C>T	uc002zxd.3	-	2	546	c.428G>A	c.(427-429)gGa>gAa	p.G143E	IGLL1_uc002zxe.3_3'UTR	NM_020070	NP_064455	P15814	IGLL1_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA.	143	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CGTCAAGATTCCCGGATAAAA	0.587000														58			35		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389943	77389943	+	Missense_Mutation	SNP	G	A	A	rs149929752		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr16:77389943G>A	uc002ffc.4	-	8	1773	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	ADAMTS18_uc010chc.1_Missense_Mutation_p.P40S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P148S|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	452	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P452S(4)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTTCTGCAGGGATTCCCTTCT	0.428000														34			42		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144947068	144947068	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:144947068G>A	uc003zaa.1	-	0	367	c.354C>T	c.(352-354)gcC>gcT	p.A118A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	118						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)			AGCCCGTAGTGGCACGCTCAG	0.677000														31			5		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46657585	46657585	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:46657585A>T	uc003oyj.3	+	0	1974	c.1720A>T	c.(1720-1722)Aat>Tat	p.N574Y	TDRD6_uc010jze.3_Missense_Mutation_p.N574Y	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	574	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.G573G(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGACCGAGGCAATTCGGAAAA	0.448000														120			47		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957434	35957434	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:35957434C>T	uc003jjv.2	-	4	1124	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.E311K|UGT3A1_uc011cor.2_Missense_Mutation_p.E277K	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	311						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGAGGACTTCCTGGGACTGA	0.502000														20			23		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319301	123319301	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:123319301G>A	uc003pzi.1	+	1	1248	c.379G>A	c.(379-381)Gat>Aat	p.D127N		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	127	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.W126C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGCCAATTGGGATCAGAGCAG	0.468000														33			34		0	0	1	0	0
DSCR4	10281	broad.mit.edu	37	21	39492469	39492469	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr21:39492469G>A	uc002ywp.3	-	1	267	c.162C>T	c.(160-162)atC>atT	p.I54I	DSCR8_uc002ywt.4_5'Flank|DSCR8_uc010gnp.3_5'Flank|DSCR8_uc010gnq.3_5'Flank|DSCR8_uc010gnr.3_5'Flank|DSCR8_uc010gns.3_5'Flank	NM_005867	NP_005858	P56555	DSCR4_HUMAN	Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA.	54										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						ggcaggaaacgatgttgcaga	0.398000														42			38		0	0	1	0	0
C20orf166	128826	broad.mit.edu	37	20	61167716	61167716	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:61167716C>T	uc011aaj.2	+	3	965	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_178463	NP_848558	Q9H1L0	CT166_HUMAN	Homo sapiens chromosome 20 open reading frame 166 (C20orf166), mRNA.	62										endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			AAATTCTTCTCTTTGTCAATG	0.483000														23			19		0	0	1	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149777834	149777834	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:149777834C>T	uc010kid.3	-	3	918	c.648G>A	c.(646-648)caG>caA	p.Q216Q	ZC3H12D_uc003qmn.1_Silent_p.Q216Q	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	216						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TGAGCAGCCTCTGCTCGATGA	0.667000														43			19		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156834553	156834553	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:156834553G>A	uc001fqh.1	+	2	377	c.321G>A	c.(319-321)gcG>gcA	p.A107A	NTRK1_uc001fqf.1_Silent_p.A77A|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.A107A|NTRK1_uc009wsk.1_Silent_p.A107A	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	107			A -> V (in an ovarian serous carcinoma sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A107V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTTTCGTGGCGCCAGATGCCT	0.632000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				37			6		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28421699	28421699	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:28421699C>T	uc001zbj.3	-	62	9667	c.9561G>A	c.(9559-9561)cgG>cgA	p.R3187R		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3187					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)		CACTTCCGCCCCGGCCCAGTT	0.498000														65			80		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768538	117768538	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:117768538C>T	uc001twn.2	-	1	1048	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	NOS1_uc001twm.2_Missense_Mutation_p.G113S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	113	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCCCATCACCTGTAAAGGTG	0.632000														21			31		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30034118	30034118	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:30034118G>A	uc021qfi.1	-	0	108	c.108C>T	c.(106-108)tcC>tcT	p.S36S	KCNA4_uc001msk.3_Silent_p.S36S	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	36						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.S36S(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CAGCTGCCCTGGAGTGAGCAA	0.657000														22			45		0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14266210	14266210	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:14266210C>T	uc010xnn.2	-	18	3566	c.3270G>A	c.(3268-3270)ggG>ggA	p.G1090G	LPHN1_uc010xno.2_Silent_p.G1085G|LOC100507373_uc002myf.3_Non-coding_Transcript	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1090					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGATGAAGACCCCCTGGAAGG	0.582000														55			42		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26717846	26717846	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:26717846G>A	uc002rhk.3	-	8	988	c.861C>T	c.(859-861)tcC>tcT	p.S287S		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	287	C2 1.				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)					ACTCCTTCATGGATGTGTACT	0.592000														66			39		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065265	9065265	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:9065265G>A	uc002mkp.3	-	2	22385	c.22181C>T	c.(22180-22182)tCc>tTc	p.S7394F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7396	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						AGACAGCTGGGAAGATGGAGG	0.507000														41			4		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11111118	11111118	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:11111118G>A	uc003jfa.1	-	13	2460	c.2315C>T	c.(2314-2316)tCg>tTg	p.S772L	CTNND2_uc010itt.2_Missense_Mutation_p.S681L|CTNND2_uc011cmy.1_Missense_Mutation_p.S435L|CTNND2_uc011cmz.1_Missense_Mutation_p.S339L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S339L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	772					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						CAGCCGGTACGAGAGGTTCCT	0.537000														95			34		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202195	248202195	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:248202195C>T	uc001idw.3	+	0	722	c.626C>T	c.(625-627)cCt>cTt	p.P209L	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTTGTGCTTCCTTTCACTGGT	0.493000														149			252		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20885948	20885948	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:20885948C>T	uc010sii.2	+	10	1647	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L	SLCO1C1_uc010sij.2_Missense_Mutation_p.S382L|SLCO1C1_uc009zip.3_Missense_Mutation_p.S265L|SLCO1C1_uc001rei.3_Missense_Mutation_p.S431L|SLCO1C1_uc010sik.2_Missense_Mutation_p.S313L	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	431					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TACTTGGGATCATCTGTCTTT	0.448000														118			18		0	0	1	0	0
LIX1	167410	broad.mit.edu	37	5	96432560	96432560	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:96432560C>T	uc003kmy.4	-	4	755	c.515G>A	c.(514-516)tGg>tAg	p.W172*		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA.	172										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GCTTCCATTCCAGTGCAATAG	0.443000														39			44		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915911	39915911	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:39915911C>T	uc010xuz.2	+	18	4463	c.4138C>T	c.(4138-4140)Cct>Tct	p.P1380S	PLEKHG2_uc010xuy.2_Silent_p.L1202L|PLEKHG2_uc002olj.3_Missense_Mutation_p.P571S|PLEKHG2_uc010xva.2_Missense_Mutation_p.P1158S	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1380					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCAGGGGGCTCCTGATGCCCC	0.607000														27			10		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:33962623T>G	uc001zhi.3	+	37	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_uc010bar.3_Missense_Mutation_p.V1909G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(2)		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)		TTGCTAGGGGTTCCTTTggaa	0.473000														11			8		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98547413	98547413	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr7:98547413C>T	uc003upp.3	+	35	5272	c.5063C>T	c.(5062-5064)aCc>aTc	p.T1688I	TRRAP_uc011kis.2_Missense_Mutation_p.T1670I|TRRAP_uc003upr.3_Missense_Mutation_p.T1387I	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1688					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|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)			ATGGCAGCCACCAACTGGAAG	0.622000														20			38		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535170	50535170	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:50535170C>T	uc001zxz.3	-	11	1618	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	HDC_uc001zxy.3_Missense_Mutation_p.E169K|HDC_uc010uff.2_Missense_Mutation_p.E393K	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	426					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TTAGCTATTTCCTTTAACACA	0.473000														61			20		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136548427	136548427	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:136548427G>A	uc002tuu.1	-	14	5147	c.5136C>T	c.(5134-5136)cgC>cgT	p.R1712R		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1712	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)		CTGGCCACGAGCGATCTGCGA	0.458000														41			19		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455108	70455108	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:70455108C>T	uc011caq.2	-	6	2180	c.2064G>A	c.(2062-2064)aaG>aaA	p.K688K	UGT2A1_uc010ihu.3_Silent_p.K522K|UGT2A1_uc003hem.4_Silent_p.K522K|UGT2A1_uc010ihs.3_Silent_p.K531K|UGT2A1_uc021xox.1_Silent_p.K487K|UGT2A1_uc010iht.3_Silent_p.K478K	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	522					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTTTTCTTCTTTCCTATCT	0.328000														25			36		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57809130	57809130	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:57809130C>T	uc010bfw.3	+	9	2749	c.2556C>T	c.(2554-2556)atC>atT	p.I852I	CGNL1_uc002aeg.3_Silent_p.I852I	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	852						myosin complex|tight junction	motor activity	p.I852I(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAAGGCAGATCGAGGACCTGA	0.577000														30			9		0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207820286	207820286	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:207820286A>C	uc002vby.2	+	2	311	c.265A>C	c.(265-267)Aag>Cag	p.K89Q		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	89					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GTATTATCTGAAGGTGAGTGA	0.443000														66			25		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176147	112176147	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:112176147C>T	uc003kpz.4	+	16	5049	c.4856C>T	c.(4855-4857)cCa>cTa	p.P1619L	APC_uc011cvt.2_Missense_Mutation_p.P1601L|APC_uc003kpy.4_Missense_Mutation_p.P1619L|APC_uc010jbz.3_Missense_Mutation_p.P1336L|APC_uc010jca.3_Missense_Mutation_p.P919L	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1619	Ser-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	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|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	p.K1192fs*3(1)|p.?(1)		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)		AAACTTCTACCATCACAAAAC	0.453000		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)				74			96		0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7046361	7046361	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:7046361C>T	uc001qrw.1	+	4	2168	c.1931C>T	c.(1930-1932)cCg>cTg	p.P644L	ATN1_uc001qrx.1_Missense_Mutation_p.P644L	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	644					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AAGAGAGCCCCGTCCCCGGGG	0.672000														24			38		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183050723	183050723	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:183050723G>A	uc002uos.3	-	13	1544	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	PDE1A_uc010zfp.1_Missense_Mutation_p.S383F|PDE1A_uc002uoq.1_Missense_Mutation_p.S487F|PDE1A_uc010zfq.1_Missense_Mutation_p.S487F|PDE1A_uc002uor.3_Missense_Mutation_p.S471F|PDE1A_uc002uou.3_Missense_Mutation_p.S453F	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	487	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GTAGTCTGGGGAATAGGACCC	0.463000														67			32		0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150049259	150049259	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:150049259C>T	uc001etp.3	+	5	1099	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	VPS45_uc010pbp.1_Intron|VPS45_uc010pbq.2_Missense_Mutation_p.R140C|VPS45_uc010pbs.2_Intron|VPS45_uc001etq.3_5'Flank|VPS45_uc009wlm.1_Missense_Mutation_p.R152C|VPS45_uc010pbr.1_Missense_Mutation_p.R140C	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	176					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	Golgi membrane|endosome membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCATGATTCGTTATCAGCT	0.428000														137			38		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110424632	110424632	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:110424632C>T	uc003yne.3	+	19	2328	c.2224C>T	c.(2224-2226)Cct>Tct	p.P742S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	742					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)			TTTATTGTTTCCTTATAATCA	0.313000										HNSCC(38;0.096)				13			16		0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273405	125273405	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:125273405G>A	uc011lyv.2	+	0	325	c.325G>A	c.(325-327)Gac>Aac	p.D109N	OR1J2_uc004bmj.2_Missense_Mutation_p.D109N	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D109N(4)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ATTTTTTACTGACCTGGACAG	0.413000														51			48		0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43907878	43907878	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:43907878C>T	uc010dap.3	+	7	1003	c.738C>T	c.(736-738)atC>atT	p.I246I	CRHR1_uc010wjx.2_Silent_p.I42I|CRHR1_uc002ijp.3_Silent_p.I116I|CRHR1_uc002ijm.3_Silent_p.I217I|CRHR1_uc002ijn.3_Silent_p.I177I|CRHR1_uc010dar.3_Silent_p.I217I|CRHR1_uc010dao.3_Silent_p.I116I|CRHR1_uc010daq.3_Silent_p.I42I|CRHR1_uc021tyu.1_Silent_p.I42I	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	246					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACACAGCCATCGTGCTCACCT	0.617000														80			86		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52709845	52709845	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:52709845G>T	uc001saf.2	-	6	1157	c.1094C>A	c.(1093-1095)gCc>gAc	p.A365D		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	365	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity	p.A365D(4)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACTGAGGGCCGCCTCACC	0.597000														48			5		0.184627	0.184627	1	1	0
MPI	4351	broad.mit.edu	37	15	75190017	75190017	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr15:75190017G>A	uc002azc.1	+	7	1223	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L	MPI_uc002azd.1_3'UTR|MPI_uc010ulx.1_Silent_p.L356L|MPI_uc002aze.1_Silent_p.L345L	NM_002435	NP_002426	P34949	MPI_HUMAN	Homo sapiens mannose phosphate isomerase (MPI), mRNA.	406					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GTGTCTCACTGAAGCTTACTG	0.562000														25			40		0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348796	348796	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:348796G>A	uc003msx.3	+	6	902	c.463G>A	c.(463-465)Gga>Aga	p.G155R	DUSP22_uc011dhn.1_Missense_Mutation_p.G155R|DUSP22_uc003msy.1_Missense_Mutation_p.G112R	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	155					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GGAAGAATATGGAGAGAGCCC	0.552000														74			21		0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35827561	35827561	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:35827561C>T	uc002xgp.3	+	3	716	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S	RPN2_uc010gfw.2_Intron|RPN2_uc002xgq.3_Missense_Mutation_p.P106S|RPN2_uc021wdb.1_5'UTR	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	138					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTTTGGCCTTCCCTTGGCATC	0.517000														64			47		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69058575	69058575	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:69058575C>T	uc003xxv.1	+	33	4246	c.4219C>T	c.(4219-4221)Ctt>Ttt	p.L1407F		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1407					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCATCCTGTTCTTTTTGCACA	0.318000														58			19		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1920400	1920400	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:1920400A>T	uc001aim.1	-	2	236	c.80T>A	c.(79-81)tTa>tAa	p.L27*	KIAA1751_uc009vkz.1_Nonsense_Mutation_p.L27*|KIAA1751_uc001ain.1_Nonsense_Mutation_p.L27*	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	27										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CGGATCCTCTAATTCATCTCT	0.403000														36			16		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6472754	6472754	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:6472754A>G	uc001qnw.3	-	1	980	c.716T>C	c.(715-717)cTg>cCg	p.L239P	SCNN1A_uc001qnv.3_5'UTR|SCNN1A_uc001qnx.3_Missense_Mutation_p.L180P|SCNN1A_uc010sfb.2_Missense_Mutation_p.L203P	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	180					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	p.Q239Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGTCCCCCGCAGGTCGCGACG	0.687000														12			3		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488092	24488092	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:24488092C>T	uc003jgr.2	-	11	2553	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	683					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E682G(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTTTTTTTCCTCAATGGCT	0.478000										HNSCC(23;0.051)				38			42		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41061705	41061705	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:41061705C>T	uc003jmj.4	-	5	1072	c.582G>A	c.(580-582)atG>atA	p.M194I	HEATR7B2_uc021xxt.1_Missense_Mutation_p.M194I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	194							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CCCACTTCTCCATTATATACC	0.483000														109			38		0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108920197	108920197	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:108920197C>T	uc001tmz.1	-	15	2284	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E	SART3_uc001tmy.1_Silent_p.E209E|SART3_uc009zux.1_Silent_p.E295E|SART3_uc010swx.1_Silent_p.E647E|SART3_uc010swy.1_Silent_p.E569E|SART3_uc010swz.1_Missense_Mutation_p.E682K	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	683					RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AGGCTGCCTTCTCCTTCTGCT	0.577000									Porokeratosis					71			22		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108682309	108682309	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:108682309C>T	uc003dxl.3	-	26	2838	c.2751G>A	c.(2749-2751)ctG>ctA	p.L917L	MORC1_uc011bhn.2_Silent_p.L896L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	917					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						GAAGATTCTTCAGCTTATCCT	0.358000														105			29		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34011792	34011792	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:34011792G>A	uc001bxm.1	-	56	9122	c.8945C>T	c.(8944-8946)cCt>cTt	p.P2982L	CSMD2_uc001bxn.1_Missense_Mutation_p.P2838L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2955	Sushi 22.					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)				CGGGATCCCAGGGTCACCGCA	0.557000														23			32		0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150569882	150569882	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:150569882G>A	uc003qnt.3	+	4	565	c.424_splice	c.e4-1	p.E142_splice		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.	142					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TCTCTTTTAGGAATTTATCAA	0.383000														23			20		0	0	1	0	0
ARF6	382	broad.mit.edu	37	14	50360478	50360478	+	Silent	SNP	C	A	A	rs140399482	byFrequency	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:50360478C>A	uc021rsu.1	+	0	24	c.24C>A	c.(22-24)atC>atA	p.I8I	ARF6_uc001wxg.4_Silent_p.I8I	NM_001663	NP_001654	P62330	ARF6_HUMAN	Homo sapiens ADP-ribosylation factor 6 (ARF6), mRNA.	8					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of Rac protein signal transduction|regulation of dendritic spine development|regulation of filopodium assembly|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|cell cortex|endosome membrane|filopodium membrane|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					TATCCAAAATCTTCGGGAACA	0.632000														33			41		4.07013e-28	4.21065e-28	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160477489	160477489	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:160477489T>C	uc003qta.3	+	19	2876	c.2728T>C	c.(2728-2730)Tgt>Cgt	p.C910R		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	910					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CAACTGGGAGTGTGTGGTCAG	0.488000														47			36		0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136403521	136403521	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:136403521A>G	uc011mdl.2	+	3	841	c.284A>G	c.(283-285)aAg>aGg	p.K95R	ADAMTSL2_uc004cei.3_Missense_Mutation_p.K95R	NM_001145320	NP_055509	Q86TH1	ATL2_HUMAN	Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA.	95	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GGCACGTCCAAGCGGTACCAG	0.652000														72			17		0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151016157	151016157	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:151016157C>T	uc001ewl.2	+	6	978	c.805C>T	c.(805-807)Cca>Tca	p.P269S	BNIPL_uc009wmi.2_Missense_Mutation_p.P187S|BNIPL_uc009wmj.2_Non-coding_Transcript	NM_138278	NP_001153114	Q7Z465	BNIPL_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kD interacting protein like (BNIPL), transcript variant 1, mRNA.	269	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCCCAAGTTCCACCTCTAAG	0.502000														108			28		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382136	41382136	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:41382136C>T	uc003jmm.1	-	1	706	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	202					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AAGGGCACTTCCAGAGCCACT	0.507000														51			44		0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14952450	14952450	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrY:14952450A>G	uc004fst.1	+	35	6943	c.5998A>G	c.(5998-6000)Atg>Gtg	p.M2000V	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	2000					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGTGAAATTTATGCATAACCG	0.353000														17			39		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153320361	153320361	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:153320361C>T	uc001fbo.3	-	2	114	c.49_splice	c.e2+1	p.G17_splice	PGLYRP4_uc001fbp.3_Splice_Site_p.G17_splice	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	17					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)			AAAACTTACCCCAGGCCTGGA	0.512000														27			5		0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24175005	24175005	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:24175005C>T	uc003ndx.3	-	9	1686	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	DCDC2_uc003ndy.3_Missense_Mutation_p.E462K|DCDC2_uc003ndw.3_Missense_Mutation_p.E213K	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	462					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TTTTCATTTTCTTCTGGACTG	0.373000														86			41		0	0	1	0	0
FAM221B	392307	broad.mit.edu	37	9	35819941	35819941	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:35819941C>T	uc010mlc.2	-	3	1084	c.799G>A	c.(799-801)Gat>Aat	p.D267N	FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Missense_Mutation_p.D267N	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA.	267										endometrium(2)|kidney(1)|lung(4)	7						CTGGACTCATCCCCAATCCGG	0.493000														13			20		0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917424	48917424	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:48917424C>T	uc002isv.4	+	1	1469	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	WFIKKN2_uc010dbu.3_Missense_Mutation_p.H166Y	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	259	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCGGCCCAACCATGTGCGTGG	0.607000														58			28		0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39485688	39485688	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:39485688C>T	uc002rro.3	-	29	2440	c.2349G>A	c.(2347-2349)gaG>gaA	p.E783E	MAP4K3_uc002rrp.3_Silent_p.E762E|MAP4K3_uc010yns.2_Silent_p.E336E	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	783	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGGTATCTCTCTCCAGTTGGG	0.328000														67			58		0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:219449406C>T	uc010zkh.2	+	3	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_uc002vih.1_Missense_Mutation_p.P131L|RQCD1_uc010zki.2_Missense_Mutation_p.P131L	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000														221			106		0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44272529	44272529	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr6:44272529C>T	uc010jza.1	-	11	1608	c.1605G>A	c.(1603-1605)gtG>gtA	p.V535V	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	535					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ACAGTTGCAACACCTGGGCCT	0.612000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			9		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3350283	3350283	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr1:3350283C>T	uc001akf.3	+	16	3821	c.3739C>T	c.(3739-3741)Cac>Tac	p.H1247Y	PRDM16_uc001ake.3_Intron|PRDM16_uc009vlh.3_Missense_Mutation_p.H947Y|PRDM16_uc001akc.3_Intron	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1247	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CACTCCTCTCCACACCCCCTC	0.617000			T	EVI1	"""MDS, AML"""									187			51		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38833631	38833631	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:38833631G>A	uc003ciq.3	-	1	299	c.299C>T	c.(298-300)aCc>aTc	p.T100I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	100					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)	CCGGGAAATGGTCCTCCCTTT	0.433000														140			51		0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123213940	123213940	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr12:123213940G>A	uc001ucz.3	-	0	1190	c.947C>T	c.(946-948)tCg>tTg	p.S316L	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	316					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						ACCGAGGTTCGAAATTGGCAT	0.493000														137			46		0	0	1	0	0
TCRVA15	0	broad.mit.edu	37	14	22217496	22217496	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr14:22217496C>T	uc010aiq.1	+	0	102	c.23C>T	c.(22-24)tCg>tTg	p.S8L	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 5, partial cds, clone: SEB 96.																		GCTGGATTTTCGTTCCTGTTT	0.458000														82			94		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901005	123901005	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr11:123901005C>T	uc001pzp.1	+	0	676	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	226					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)		TTCCATCCTGCGGATCCGCAC	0.517000														13			57		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40291795	40291795	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr3:40291795G>A	uc003cka.3	+	13	2480	c.2345G>A	c.(2344-2346)cGg>cAg	p.R782Q	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.R717Q|MYRIP_uc010hhw.3_Missense_Mutation_p.R693Q|MYRIP_uc011ayz.2_Missense_Mutation_p.R595Q|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	782	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACAAGAAGACGGGATCAGAAG	0.433000														40			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393755	179393755	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:179393755C>T	uc021vsy.1	-	308	99244	c.99019G>A	c.(99019-99021)Gaa>Aaa	p.E33007K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E26702K|TTN_uc021vta.1_Missense_Mutation_p.E26635K|TTN_uc021vtb.1_Missense_Mutation_p.E26510K|TTN_uc002umq.3_Missense_Mutation_p.E24K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33934							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)			TTCTTGACTTCTTCAGAAATC	0.408000														39			42		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156746841	156746841	+	Silent	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:156746841G>A	uc021ygm.1	+	13	1563	c.1425G>A	c.(1423-1425)agG>agA	p.R475R	CYFIP2_uc011ddn.2_Silent_p.R450R|CYFIP2_uc011ddo.2_Silent_p.R280R|CYFIP2_uc021ygn.1_Silent_p.R475R|CYFIP2_uc021ygo.1_Silent_p.R475R|CYFIP2_uc003lwt.3_Silent_p.R354R|CYFIP2_uc011ddp.2_Silent_p.R210R	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	476					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGCCATCAGGAACACCATCT	0.597000														87			31		0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96863862	96863862	+	Silent	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:96863862C>T	uc010mrj.2	+	6	2130	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S	PTPDC1_uc004auf.2_Silent_p.S622S|PTPDC1_uc004aug.2_Silent_p.S617S|PTPDC1_uc004auh.2_Silent_p.S674S	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	622							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R675Q(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AGCTTAATTCCCGAGATGGAG	0.483000														53			18		0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6794288	6794288	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:6794288G>A	uc003wqu.1	-	1	185	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	45					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCATGCAAAGGAAATAGATAT	0.557000														62			17		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543410	141543410	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:141543410C>T	uc010ioj.3	-	20	4012	c.3740G>A	c.(3739-3741)cGg>cAg	p.R1247Q		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1247						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCCCATCATCCGGATGTTTTT	0.597000														48			13		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91951	91951	+	RNA	SNP	C	G	G			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chrGL000211.1:91951C>G	uc003bnz.1	+	6		c.1307C>G			FLJ43315_uc003boa.3_Intron					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAATTTATCTATAGATTTC	0.318000														12			6		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79785971	79785971	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr10:79785971C>T	uc001jzn.3	-	1	194	c.61G>A	c.(61-63)Gga>Aga	p.G21R		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	21					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GACTTCATTCCAAAACAGATG	0.453000														19			11		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91389455	91389455	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr4:91389455G>A	uc003hsv.4	+	4	2014	c.1674G>A	c.(1672-1674)atG>atA	p.M558I	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.M558I	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	558										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TGGAACCAATGATAGAAATGA	0.383000														16			25		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	-	-			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr2:29295647_29295649delTCC	uc002rmt.2	-	0	1479_1481	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	493					response to stimulus|visual perception	photoreceptor outer segment		p.E492K(1)		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													---	205	---	---	8	---					
CCDC125	202243	broad.mit.edu	37	5	68609835	68609847	+	Frame_Shift_Del	DEL	GCCTTAATTCTTC	-	-			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr5:68609835_68609847delGCCTTAATTCTTC	uc003jvv.1	-	1	371_383	c.331_343delGAAGAATTAAGGC	c.(331-345)gaagaattaaggcaafs	p.E111fs	CCDC125_uc003jvx.1_Frame_Shift_Del_p.E110fs|CCDC125_uc003jvy.1_Intron|CCDC125_uc003jvw.2_5'UTR|CCDC125_uc003jvz.1_Intron	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	Homo sapiens coiled-coil domain containing 125 (CCDC125), mRNA.	111						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TTAAGACATTGCCTTAATTCTTCATTTGACAAT	0.362													---	83	---	---	45	---					
PABPC1	26986	broad.mit.edu	37	8	101724994	101724995	+	Frame_Shift_Ins	INS	-	A	A	rs140822921	by1000genomes	TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:101724994_101724995insA	uc003yjs.1	-	5	1265_1266	c.761_762insT	c.(760-762)aagfs	p.K254fs	PABPC1_uc011lhc.1_Frame_Shift_Ins_p.K222fs|PABPC1_uc011lhd.1_Frame_Shift_Ins_p.K209fs|PABPC1_uc003yjt.1_Frame_Shift_Ins_p.K251fs|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	254	CSDE1-binding.|RRM 3.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371													---	55	---	---	10	---					
ZC3H3	23144	broad.mit.edu	37	8	144620643	144620652	+	Frame_Shift_Del	DEL	AACCAGCGAG	-	-			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr8:144620643_144620652delAACCAGCGAG	uc003yyd.2	-	1	914_923	c.885_894delCTCGCTGGTT	c.(883-894)gcctcgctggttfs	p.A295fs		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	295					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GACAGGTCACAACCAGCGAGGCCTCCCGGG	0.629													---	122	---	---	9	---					
BC080605	0	broad.mit.edu	37	9	68413562	68413563	+	RNA	INS	-	G	G	rs71256949		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr9:68413562_68413563insG	uc004aex.3	+	0		c.117_118insG								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TTCAGCTCCCCCAGTGGCGCCG	0.599													---	4	---	---	2	---					
NARF	26502	broad.mit.edu	37	17	80436763	80436763	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr17:80436763delC	uc010dit.3	+	5	748	c.608delC	c.(607-609)tctfs	p.S203fs	NARF_uc002kff.4_Frame_Shift_Del_p.S144fs|NARF_uc010wvo.1_Frame_Shift_Del_p.S158fs|NARF_uc010wvp.1_Frame_Shift_Del_p.S75fs|NARF_uc002kfg.4_Frame_Shift_Del_p.S203fs|NARF_uc002kfj.4_Frame_Shift_Del_p.S155fs	NM_031968	NP_114174	Q9UHQ1	NARF_HUMAN	Homo sapiens nuclear prelamin A recognition factor (NARF), transcript variant 2, mRNA.	203						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)			GTCATGGGCTCTTTGGTGAAG	0.642													---	23	---	---	35	---					
ZNF236	7776	broad.mit.edu	37	18	74592200	74592217	+	In_Frame_Del	DEL	GGAGTCGGGGCAGTCCCC	-	-			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr18:74592200_74592217delGGAGTCGGGGCAGTCCCC	uc002lmi.3	+	7	1308_1325	c.1110_1127delGGAGTCGGGGCAGTCCCC	c.(1108-1128)gtggagtcggggcagtccccg>gtg	p.ESGQSP371del	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_In_Frame_Del_p.ESGQSP371del	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	371					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGGCGCCGGTGGAGTCGGGGCAGTCCCCGCAGCCTGGG	0.651													---	33	---	---	20	---					
ZNF573	126231	broad.mit.edu	37	19	38229202	38229203	+	Splice_Site	DEL	TC	-	-	rs74268405		TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:38229202_38229203delTC	uc002ohe.3	-	5	2257	c.2188_splice	c.e5+1		ZNF573_uc010efs.2_Splice_Site|ZNF573_uc002ohd.3_Splice_Site|ZNF573_uc002ohf.3_Splice_Site|ZNF573_uc002ohg.3_Splice_Site|ZNF573_uc021utv.1_Splice_Site	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTTTTTTTTCTTAATTTACC	0.332													---	45	---	---	10	---					
SARS2	54938	broad.mit.edu	37	19	39439219	39439221	+	In_Frame_Del	DEL	ACG	-	-			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:39439219_39439221delACG	uc002okf.1	-	2	579_581	c.474_476delCGT	c.(472-477)ttcgtg>ttg	p.158_159FV>L	SARS2_uc002okg.1_In_Frame_Del_p.149_150FV>L|SARS2_uc010xuq.1_5'UTR	NM_148169	NP_680474	Q9NP81	SYSM_HUMAN	Homo sapiens F-box protein 17 (FBXO17), transcript variant 1, mRNA.	0					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GAAAGAGGTCACGAAGCAGGTCT	0.621													---	40	---	---	28	---					
ZNF320	162967	broad.mit.edu	37	19	53384769	53384770	+	Frame_Shift_Ins	INS	-	AT	AT			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr19:53384769_53384770insAT	uc002qag.3	-	3	800_801	c.609_610insAT	c.(607-612)cacctgfs	p.H203fs	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Frame_Shift_Ins_p.H149fs|ZNF320_uc002qai.3_Frame_Shift_Ins_p.H203fs	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGTTTTGCCAGGTGTGAATCAT	0.371													---	89	---	---	15	---					
SYCP2	10388	broad.mit.edu	37	20	58452518	58452519	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FR-A3YN-06A-11D-A23B-08	TCGA-FR-A3YN-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0830b83e-feae-4407-902a-4d8955114214	98a4eb03-7971-40f6-8507-deba2565754a	g.chr20:58452518_58452519insT	uc002yaz.3	-	31	3210_3211	c.3071_3072insA	c.(3070-3072)aacfs	p.N1024fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1024					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.N1024fs*3(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327													---	88	---	---	7	---