Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC16A6	9120	broad.mit.edu	37	17	66267712	66267712	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr17:66267712C>T	ENST00000327268.4	-	6	753	c.589G>A	c.(589-591)Gga>Aga	p.G197R	SLC16A6_ENST00000580666.1_Missense_Mutation_p.G197R|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	197						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGCAGTGCTCCGAAGATGACA	0.473000													4	64					0	0	1	0	0
CLEC11A	6320	broad.mit.edu	37	19	51227212	51227212	+	Silent	SNP	T	T	G			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr19:51227212T>G	ENST00000250340.4	+	2	395	c.198T>G	c.(196-198)ccT>ccG	p.P66P	CLEC11A_ENST00000599973.1_Silent_p.P66P	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	66					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ATGAGAATCCTGCCGGAACTG	0.652000											OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	24					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	rs121913358		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr7:140481402C>G	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAGACTGTTCCAAATGATCC	0.373000	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	97					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76247049	76247049	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:76247049T>G	ENST00000529032.1	+	14	2305	c.2305T>G	c.(2305-2307)Tca>Gca	p.S769A	C11orf30_ENST00000525038.1_Missense_Mutation_p.S784A|C11orf30_ENST00000524490.1_Missense_Mutation_p.S685A|C11orf30_ENST00000533248.1_Intron|C11orf30_ENST00000334736.3_Missense_Mutation_p.S769A|C11orf30_ENST00000525919.1_Missense_Mutation_p.S770A|C11orf30_ENST00000524767.1_Missense_Mutation_p.S784A|C11orf30_ENST00000343878.3_Missense_Mutation_p.S769A			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	769					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATCCAGTGAATCACAATCAGC	0.403000													7	12					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40827928	40827928	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr20:40827928G>A	ENST00000373198.3	-	17	2744	c.2509C>T	c.(2509-2511)Cgc>Tgc	p.R837C	PTPRT_ENST00000373201.1_Missense_Mutation_p.R805C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R824C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R805C|PTPRT_ENST00000373187.1_Missense_Mutation_p.R815C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R818C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R815C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	815					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCATCATTGCGGCTGGCGCTG	0.582000													7	424					0	0	1	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47198145	47198145	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:47198145C>T	ENST00000524782.1	-	2	341	c.113G>A	c.(112-114)aGc>aAc	p.S38N	ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S38N|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	38	Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	p.S38N(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTACGTGATGCTGGCCCAACT	0.632000													10	81					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515372	51515372	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:51515372G>A	ENST00000328188.1	+	1	91	c.91G>A	c.(91-93)Gtc>Atc	p.V31I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGTGTTTTTTGTCATCTATAT	0.433000													24	122					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389894	48389894	+	Silent	SNP	C	C	G	rs145181839	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:48389894C>G	ENST00000224600.4	-	1	1097	c.984G>C	c.(982-984)ggG>ggC	p.G328G		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	328	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)	AGTGGACTACCCCTGGAAGGG	0.672000													8	31					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190738	17190738	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:17190738G>A	ENST00000265970.7	-	1	550	c.551C>T	c.(550-552)cCt>cTt	p.P184L	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	184					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAAATATATAGGTTCTGTAGA	0.398000													25	60					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124273783	124273783	+	Missense_Mutation	SNP	G	G	A	rs149822364	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:124273783G>A	ENST00000368984.3	+	9	1479	c.1351G>A	c.(1351-1353)Gtc>Atc	p.V451I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	451	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGTCAGCGACGTCATTAAAAG	0.483000													51	140					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777442	123777442	+	Missense_Mutation	SNP	T	T	C	rs79561639	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123777442T>C	ENST00000321355.2	+	1	334	c.304T>C	c.(304-306)Ttt>Ctt	p.F102L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GATTCAGCTGTTTTTTTTCTG	0.438000													5	207					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215960060	215960060	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr1:215960060C>A	ENST00000366943.2	-	52	10725	c.10339G>T	c.(10339-10341)Gcc>Tcc	p.A3447S	USH2A_ENST00000307340.3_Missense_Mutation_p.A3447S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3447	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTCTTCGGCAGATGAACAC	0.453000										HNSCC(13;0.011)			5	76					1.23904e-05	1.23904e-05	1	1	0
TRIM40	135644	broad.mit.edu	37	6	30104886	30104886	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:30104886G>A	ENST00000396581.1	+	2	459	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	TRIM40_ENST00000307859.4_Missense_Mutation_p.V25M|TRIM40_ENST00000376724.2_Missense_Mutation_p.V25M|TRIM40_ENST00000489892.1_3'UTR			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	25						intracellular	zinc ion binding			ovary(1)	1						GAAGGAGGCCGTGAGCACCAA	0.607000													19	49					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237113	29237113	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr14:29237113T>C	ENST00000382535.3	+	2	997	c.628T>C	c.(628-630)Ttc>Ctc	p.F210L	FOXG1_ENST00000313071.4_Missense_Mutation_p.F210L			P55316	FOXG1_HUMAN	forkhead box G1	210					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CATCTACGAGTTCATCATGAA	0.572000													14	47					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51451965	51451965	+	Silent	SNP	A	A	G			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr19:51451965A>G	ENST00000336334.3	-	5	1009	c.657T>C	c.(655-657)gaT>gaC	p.D219D	KLK5_ENST00000593428.1_Silent_p.D219D|KLK5_ENST00000391809.2_Silent_p.D219D	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	219	Peptidase S1.				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)		TCGGGTAAGCATCCTCGCACC	0.493000													8	54					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768604	121768604	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:121768604C>T	ENST00000282561.3	+	2	768	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	204			T -> M (in dbSNP:rs2228965).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTCGCCCCACGGAGAAAACC	0.473000													11	139					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48139193	48139193	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr16:48139193C>T	ENST00000311303.3	-	19	2875	c.2530G>A	c.(2530-2532)Gca>Aca	p.A844T	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.A841T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	844	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCGATGTCTGCCAGCACCGCG	0.532000													12	15					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138426080	138426080	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr3:138426080T>C	ENST00000477593.1	-	10	1524	c.1451A>G	c.(1450-1452)tAt>tGt	p.Y484C	PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y484C|PIK3CB_ENST00000544716.1_Intron			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	484					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATTTTCAGTATATGGATTTGT	0.299000													7	25					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4130909	4130909	+	Silent	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:4130909C>T	ENST00000300738.5	+	5	627	c.423C>T	c.(421-423)ttC>ttT	p.F141F	RRM1_ENST00000423050.2_Silent_p.F44F	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	141					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ACCGAGATTTCTCTTACAATT	0.294000													8	26					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136913365	136913365	+	Silent	SNP	G	G	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:136913365G>T	ENST00000359015.4	-	23	3531	c.3171C>A	c.(3169-3171)atC>atA	p.I1057I	MAP3K5_ENST00000355845.4_Silent_p.I304I	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1057					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTTCCGTCAGGATCCTGTGAA	0.438000													46	105					4.18559e-23	4.3849e-23	1	1	0
GLIS1	148979	broad.mit.edu	37	1	53990499	53990499	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr1:53990499C>T	ENST00000312233.2	-	5	1585	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	340					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GACGTGCTTGCGGAGGGAGCT	0.637000													4	172					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	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													7	19					0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22796887	22796887	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr12:22796887G>A	ENST00000266517.4	+	2	703	c.614G>A	c.(613-615)gGa>gAa	p.G205E	ETNK1_ENST00000335148.3_Missense_Mutation_p.G205E	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	205					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCAATAATGGACTATGCTAT	0.403000													26	106					0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211341083	211341083	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr2:211341083T>C	ENST00000443314.1	-	1	380	c.38A>G	c.(37-39)tAt>tGt	p.Y13C	LANCL1_ENST00000441020.3_Missense_Mutation_p.Y13C|LANCL1_ENST00000450366.2_Missense_Mutation_p.Y13C|LANCL1_ENST00000431941.2_Missense_Mutation_p.Y13C|LANCL1_ENST00000233714.4_Missense_Mutation_p.Y13C			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	13						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GGATTTGTTATAATCAGCATA	0.542000													15	35					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777463	123777463	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123777463A>C	ENST00000321355.2	+	1	355	c.325A>C	c.(325-327)Att>Ctt	p.I109L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGTTTGTGTTATTTCTGAATG	0.468000													4	180					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651423	1651423	+	Missense_Mutation	SNP	G	G	C	rs76164438		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:1651423G>C	ENST00000399676.2	+	1	391	c.353G>C	c.(352-354)gGc>gCc	p.G118A		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	118	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament		p.G118A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCAAGGGGGGCTGTGGCTCC	0.701000													4	91					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70477514	70477514	+	Silent	SNP	A	A	G			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr14:70477514A>G	ENST00000381280.4	+	8	961	c.708A>G	c.(706-708)gaA>gaG	p.E236E	SMOC1_ENST00000361956.3_Silent_p.E236E	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	236	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GTGCCCTGGAAGAGGCCCAGC	0.537000													39	111					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3319513	3319513	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr4:3319513C>T	ENST00000336727.3	+	2	2520	c.1616C>T	c.(1615-1617)cCg>cTg	p.P539L	RGS12_ENST00000382788.3_Missense_Mutation_p.P539L|RGS12_ENST00000543385.1_Missense_Mutation_p.P539L|RGS12_ENST00000344733.5_Missense_Mutation_p.P539L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	539						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGCTGGCTCCCGGTCCACGTG	0.637000													10	41					0	0	1	0	0
PCDHA2	0	broad.mit.edu	37	5	140176001	140176001	+	Silent	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr5:140176001G>A	ENST00000526136.1	+	1	1452	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A	PCDHA2_ENST00000378132.1_Silent_p.A484A|PCDHA2_ENST00000520672.2_Silent_p.A484A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACGCGCAGGAGAACG	0.657000													20	96					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22268698	22268698	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr16:22268698G>A	ENST00000263026.5	+	8	1367	c.893G>A	c.(892-894)gGc>gAc	p.G298D		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	298	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TTTGGAGACGGCAACCTAGGT	0.557000													4	100					0	0	1	0	0
SIX1	6495	broad.mit.edu	37	14	61115638	61115638	+	Silent	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr14:61115638C>T	ENST00000247182.6	-	1	542	c.270G>A	c.(268-270)gcG>gcA	p.A90A	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	90					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.A90A(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCACGTAATGCGCCTTCAGCC	0.627000													6	196					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48685232	48685232	+	Silent	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr17:48685232G>A	ENST00000352832.5	+	24	4860	c.4488G>A	c.(4486-4488)tcG>tcA	p.S1496S	CACNA1G_ENST00000358244.5_Silent_p.S1496S|CACNA1G_ENST00000502264.1_Silent_p.S1496S|CACNA1G_ENST00000442258.2_Silent_p.S1496S|CACNA1G_ENST00000354983.4_Silent_p.S1496S|CACNA1G_ENST00000507896.1_Silent_p.S1519S|CACNA1G_ENST00000515411.1_Silent_p.S1519S|CACNA1G_ENST00000514181.1_Silent_p.S1519S|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000514079.1_Silent_p.S1519S|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000515165.1_Silent_p.S1519S|CACNA1G_ENST00000515765.1_Silent_p.S1519S|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000510115.1_Silent_p.S1496S|CACNA1G_ENST00000429973.2_Silent_p.S1519S|CACNA1G_ENST00000507510.2_Silent_p.S1519S|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507336.1_Silent_p.S1519S|CACNA1G_ENST00000360761.4_Silent_p.S1496S|CACNA1G_ENST00000507609.1_Silent_p.S1519S|CACNA1G_ENST00000512389.1_Silent_p.S1519S|CACNA1G_ENST00000359106.5_Silent_p.S1519S|CACNA1G_ENST00000505165.1_Silent_p.S1519S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1519					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACTTCATCTCGTTCCTGCTCA	0.577000													12	81					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50530906	50530906	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:50530906G>A	ENST00000374144.3	+	3	604	c.316G>A	c.(316-318)Gtt>Att	p.V106I	C10orf71_ENST00000323868.4_Missense_Mutation_p.V106I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	106										endometrium(1)	1						ACCCAAGTACGTTCAGGGAGA	0.592000													8	119					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810394	123810394	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123810394G>A	ENST00000307033.2	+	1	145	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGAGCTTCGGTTTGTTTTC	0.463000													13	67					0	0	1	0	0
AQP1	358	broad.mit.edu	37	7	30961798	30961799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr7:30961798_30961799insC	ENST00000311813.4	+	2	557_558	c.502_503insC	c.(502-504)cccfs	p.P168fs	AQP1_ENST00000441328.2_Frame_Shift_Ins_p.P85fs|AQP1_ENST00000509504.1_Frame_Shift_Ins_p.P345fs|AQP1_ENST00000434909.2_Frame_Shift_Ins_p.P228fs|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409611.1_Frame_Shift_Ins_p.P117fs|AQP1_ENST00000409899.1_Frame_Shift_Ins_p.P53fs	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				TGGTGGCTCAGCCCCCCTTGCC	0.683													26	48	---	---	---	---					
TRBV29-1	0	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													2	4	---	---	---	---					
GPSM1	26086	broad.mit.edu	37	9	139235482	139235482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr9:139235482delC	ENST00000392945.3	+	9	1459	c.1239delC	c.(1237-1239)ctfs	p.L413fs	GPSM1_ENST00000440944.1_Intron	NM_015597.4	NP_056412.4	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	0	Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGTCTTGCTCCCCACAGGCA	0.687													9	0	---	---	---	---					
WDR11	55717	broad.mit.edu	37	10	122646216	122646219	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:122646216_122646219delAGAA	ENST00000263461.6	+	16	2235_2238	c.1989_1992delAGAA	c.(1987-1992)gcfs	p.AE663fs	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	663						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGCAGGAGGCAGAAAGTAAATCTG	0.382													7	34	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)del	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													7	261	---	---	---	---					
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr12:29450110delA	ENST00000182377.4	+	4	790	c.522delA	c.(520-522)ccfs	p.P174fs	FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388													7	165	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													3	6	---	---	---	---					
RRN3P2	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr16:29113498delT	ENST00000564580.1	+	0	1360																											AGGAGGTGGAttttttttttc	0.542													6	11	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)tcfs	p.I91fs	RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													10	116	---	---	---	---