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
PLXNA3	55558	broad.mit.edu	37	X	153689068	153689068	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:153689068G>A	ENST00000369682.3	+	2	720	c.545G>A	c.(544-546)aGc>aAc	p.S182N		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	182	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCACCTTGAGCTCCCGCAAG	0.597000													14	96					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577000			T	ETV4	prostate								5	585					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150748969	150748969	+	Silent	SNP	T	T	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:150748969T>C	ENST00000357922.4	+	7	1881	c.1287T>C	c.(1285-1287)taT>taC	p.Y429Y	ASIC3_ENST00000349064.5_Silent_p.Y429Y|ASIC3_ENST00000297512.8_Silent_p.Y429Y	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	429					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										AGAAGGCCTATGAGATGTCAG	0.587000													5	138					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75590991	75590991	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:75590991C>A	ENST00000356136.3	+	4	580	c.339C>A	c.(337-339)ttC>ttA	p.F113L	UVRAG_ENST00000528420.1_Missense_Mutation_p.F12L	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	113	C2.				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TGTCTTGTTTCGTGGTGAAGA	0.438000													37	733					5.43694e-19	6.25488e-19	1	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960214	73960214	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:73960214C>T	ENST00000373468.1	-	3	4829	c.4178G>A	c.(4177-4179)aGg>aAg	p.R1393K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R1393K			Q5QGS0	K2022_HUMAN	KIAA2022	1393					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTGATTGACCTGTGATTCTT	0.443000													36	37					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													4	102					0	0	1	0	0
ARL14EP	120534	broad.mit.edu	37	11	30352518	30352518	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:30352518G>A	ENST00000282032.3	+	2	238	c.23G>A	c.(22-24)gGa>gAa	p.G8E		NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein																		TGTTCAGTTGGAGTCCAGCTT	0.368000													10	38					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619890	77619890	+	Silent	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:77619890G>A	ENST00000521891.2	+	3	3148	c.2700G>A	c.(2698-2700)gcG>gcA	p.A900A	ZFHX4_ENST00000050961.6_Silent_p.A874A|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.A874A|ZFHX4_ENST00000455469.2_Silent_p.A874A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	874						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			GTGACCCAGCGCTGAAGCTAT	0.547000										HNSCC(33;0.089)			24	142					0	0	1	0	0
KISS1	3814	broad.mit.edu	37	1	204161910	204161910	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:204161910C>T	ENST00000367194.4	-	2	243	c.95G>A	c.(94-96)aGa>aAa	p.R32K		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	32					cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		ACCTGTGGGTCTAGAATTCCC	0.502000													25	6					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537498	55537498	+	Silent	SNP	T	T	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:55537498T>C	ENST00000220676.1	+	4	1204	c.1056T>C	c.(1054-1056)acT>acC	p.T352T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	352					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGACAACTACTGTCAGTAAAA	0.348000													14	175					0	0	1	0	0
ZNF513	130557	broad.mit.edu	37	2	27600878	27600878	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr2:27600878G>T	ENST00000323703.6	-	4	1358	c.1160C>A	c.(1159-1161)cCc>cAc	p.P387H	ZNF513_ENST00000407879.1_Missense_Mutation_p.P325H|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	387					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCGGAAGGGCTTCTCACC	0.597000													42	234					9.45407e-15	1.05951e-14	1	1	0
IGSF8	93185	broad.mit.edu	37	1	160063722	160063722	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:160063722C>A	ENST00000368086.1	-	3	898	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	IGSF8_ENST00000314485.7_Missense_Mutation_p.V228L|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	228	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGCCTCCACGGCCAAGTCT	0.627000													18	78					8.04996e-18	9.17978e-18	1	1	0
PRPF6	24148	broad.mit.edu	37	20	62631000	62631000	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr20:62631000C>T	ENST00000535781.1	+	8	1022	c.911C>T	c.(910-912)aCg>aTg	p.T304M	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	304					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	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)					GTTCGGGAGACGAACCCTCAT	0.577000													51	101					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32408205	32408205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:32408205G>A	ENST00000357033.4	-	31	4533	c.4327C>T	c.(4327-4329)Cag>Tag	p.Q1443*	DMD_ENST00000378677.2_Nonsense_Mutation_p.Q1439*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1443	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACATCAATCTGAGACAGGACT	0.388000													13	19					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102043099	102043099	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:102043099G>T	ENST00000549145.1	+	14	1322	c.1222G>T	c.(1222-1224)Ggt>Tgt	p.G408C	MYBPC1_ENST00000551300.1_Missense_Mutation_p.G296C|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G395C|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G369C|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G395C|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G383C|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G376C|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G395C|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G395C|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G395C|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G382C|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G420C|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G420C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G381C|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G395C			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	395	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TAGAGTTGAGGGTAAAAAACA	0.348000													14	82					2.23348e-06	2.37994e-06	1	1	0
SIGLEC5	8778	broad.mit.edu	37	19	52129337	52129337	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:52129337C>A	ENST00000222107.4	-	8	1550	c.1412G>T	c.(1411-1413)gGg>gTg	p.G471V	SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G471V|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G471V|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G471V|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G471V			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	471					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTCTGGTCTCCCAGCTGCTTG	0.547000													7	65					5.18039e-06	5.47521e-06	1	1	0
RYR1	6261	broad.mit.edu	37	19	38974129	38974129	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:38974129T>C	ENST00000355481.4	+	33	5038	c.4907T>C	c.(4906-4908)aTg>aCg	p.M1636T	RYR1_ENST00000360985.3_Missense_Mutation_p.M1636T|RYR1_ENST00000359596.3_Missense_Mutation_p.M1636T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1636	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGACCATGATGGCGCTGCAC	0.687000													3	4					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155165884	155165884	+	Silent	SNP	C	C	T	rs146591443		TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:155165884C>T	ENST00000368378.3	-	22	2726	c.2706G>A	c.(2704-2706)gcG>gcA	p.A902A	THBS3_ENST00000457183.2_Silent_p.A782A|THBS3_ENST00000541990.1_Silent_p.A431A|THBS3_ENST00000541576.1_Silent_p.A299A|THBS3_ENST00000487250.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	902	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCCAGAATCCGCCACAAGCT	0.527000													14	193					0	0	1	0	0
JUND	3727	broad.mit.edu	37	19	18391463	18391463	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:18391463T>C	ENST00000252818.3	-	1	969	c.832A>G	c.(832-834)Aac>Gac	p.N278D		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	278					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						GCGATGCGGTTGCGCAGCCGC	0.662000													8	23					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49933673	49933673	+	Silent	SNP	G	G	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr3:49933673G>T	ENST00000296474.3	-	10	2631	c.2604C>A	c.(2602-2604)gcC>gcA	p.A868A	MST1R_ENST00000344206.4_Silent_p.A868A	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	868					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GAACTAGGTTGGCACTGGGTG	0.577000													8	169					0.0477658	0.0488941	1	1	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	by1000genomes	TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr4:71347185T>C	ENST00000413702.1	+	4	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000													5	262					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133502234	133502234	+	Silent	SNP	T	T	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:133502234T>C	ENST00000253861.4	+	11	1700	c.1671T>C	c.(1669-1671)ccT>ccC	p.P557P	EXOC4_ENST00000545148.1_Silent_p.P167P|EXOC4_ENST00000539845.1_Silent_p.P456P|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	557					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CATCTGACCCTTTGAAGATTC	0.428000													9	44					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5564656	5564656	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr4:5564656C>G	ENST00000310917.2	-	22	4337	c.3606G>C	c.(3604-3606)gaG>gaC	p.E1202D	EVC2_ENST00000344408.5_Missense_Mutation_p.E1282D|EVC2_ENST00000344938.1_Intron	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1282						integral to membrane		p.E1282D(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCAGTGAGATCTCTGGCTCCT	0.483000													26	167					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848905	117848905	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr9:117848905C>T	ENST00000350763.4	-	3	1516	c.1105G>A	c.(1105-1107)Ggt>Agt	p.G369S	TNC_ENST00000346706.3_Missense_Mutation_p.G369S|TNC_ENST00000542877.1_Missense_Mutation_p.G369S|TNC_ENST00000341037.4_Missense_Mutation_p.G369S|TNC_ENST00000537320.1_Missense_Mutation_p.G369S|TNC_ENST00000423613.2_Missense_Mutation_p.G369S|TNC_ENST00000535648.1_Missense_Mutation_p.G369S|TNC_ENST00000345230.3_Missense_Mutation_p.G369S|TNC_ENST00000340094.3_Missense_Mutation_p.G369S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	369	EGF-like 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGTCCACACCGGCAAAGCCC	0.597000													17	101					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832787	101832787	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:101832787G>A	ENST00000263468.8	+	6	1291	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E142K	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	341							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCCTTCATGGGAATATTTTAA	0.323000													10	172					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11446636	11446636	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:11446636A>C	ENST00000423059.3	-	21	4214	c.3963T>G	c.(3961-3963)gaT>gaG	p.D1321E	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1321	TSP type-1 13.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATGGTCTTCCATCACCTTGAA	0.483000										HNSCC(18;0.044)			3	32					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947382	145947382	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:145947382G>T	ENST00000292562.7	-	5	1938	c.1663C>A	c.(1663-1665)Ctg>Atg	p.L555M	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GTCCAGCGCAGAATGAGATTT	0.488000													26	118					1.80694e-10	1.97397e-10	1	1	0
PCDHB3	56132	broad.mit.edu	37	5	140482367	140482367	+	Silent	SNP	C	C	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr5:140482367C>A	ENST00000231130.2	+	1	2134	c.2134C>A	c.(2134-2136)Cgg>Agg	p.R712R		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		712					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCGGTGCGGCTGTGCAG	0.687000													85	179					9.53958e-58	1.12741e-57	1	1	0
GATA2	2624	broad.mit.edu	37	3	128204702	128204702	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr3:128204702G>C	ENST00000341105.2	-	3	1070	c.739C>G	c.(739-741)Ccc>Gcc	p.P247A	GATA2_ENST00000487848.1_Missense_Mutation_p.P247A|GATA2_ENST00000430265.2_Missense_Mutation_p.P247A	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	247					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGGTAGGTGGGGATGGGGTGG	0.657000			Mis		AML(CML blast transformation)								9	68					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12367018	12367018	+	Silent	SNP	G	G	A	rs141538541	byFrequency	TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr18:12367018G>A	ENST00000269143.3	-	5	729	c.498C>T	c.(496-498)tcC>tcT	p.S166S		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	166					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TTTCTCTCCCGGATCTCTTGA	0.438000													36	102					0	0	1	0	0
CLN8	2055	broad.mit.edu	37	8	1719225	1719225	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:1719225A>G	ENST00000331222.4	+	2	252	c.5A>G	c.(4-6)aAt>aGt	p.N2S		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	2					cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TGGACAATGAATCCTGCGAGC	0.557000													33	61					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480823	140480823	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr5:140480823A>G	ENST00000231130.2	+	1	590	c.590A>G	c.(589-591)gAt>gGt	p.D197G	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		197	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAGTACTGGATAAAGCGCTC	0.567000													3	94					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33139881	33139881	+	Splice_Site	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:33139881C>T	ENST00000341947.2	-	41	3216		c.e41-1		COL11A2_ENST00000374713.1_Splice_Site|COL11A2_ENST00000395197.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000374708.4_Splice_Site|COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Splice_Site	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2						cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGTCCACCCTATGAACCAG	0.567000													36	477					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211296	72211296	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:72211296G>C	ENST00000340726.3	-	9	1451	c.812C>G	c.(811-813)aCa>aGa	p.T271R	EYA1_ENST00000388743.2_Missense_Mutation_p.T270R|EYA1_ENST00000388742.4_Missense_Mutation_p.T271R|EYA1_ENST00000419131.1_Missense_Mutation_p.T266R|EYA1_ENST00000388740.3_Missense_Mutation_p.T238R|EYA1_ENST00000388741.2_Missense_Mutation_p.T237R|EYA1_ENST00000303824.7_Missense_Mutation_p.T265R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	271					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGTGGGATCTGTAACTGCTTG	0.438000													17	266					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1465272	1465272	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:1465272C>T	ENST00000535453.1	+	14	3685	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C	APC2_ENST00000238483.4_Missense_Mutation_p.R384C|APC2_ENST00000233607.2_Missense_Mutation_p.R658C|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	658					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCGCAGCGCCCGTGACCAGGA	0.657000													9	10					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56473470	56473470	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:56473470G>C	ENST00000291971.3	+	4	2151	c.2080G>C	c.(2080-2082)Gac>Cac	p.D694H	NLRP8_ENST00000590542.1_Missense_Mutation_p.D694H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	694						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGGTGGCAAGACTTATGCTC	0.483000													21	142					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769799	57769799	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr20:57769799C>T	ENST00000371030.2	+	1	3725	c.3725C>T	c.(3724-3726)gCg>gTg	p.A1242V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1242						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGAGGGCCGGCGCAGATGTCC	0.592000													10	42					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12728628	12728628	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:12728628C>G	ENST00000380682.1	+	14	2087	c.1581C>G	c.(1579-1581)aaC>aaG	p.N527K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	527					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.N527K(2)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACATGGCCAACAAGAAAAACA	0.483000													55	30					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214813510	214813510	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:214813510A>C	ENST00000366955.3	+	12	1997	c.1829A>C	c.(1828-1830)gAa>gCa	p.E610A		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	610					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAAGAATATGAAGAATTGAAA	0.323000													7	24					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151266281	151266281	+	Splice_Site	SNP	C	C	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr5:151266281C>G	ENST00000274576.4	-	3	545		c.e3+1		GLRA1_ENST00000471351.2_Splice_Site|GLRA1_ENST00000455880.2_Splice_Site|GLRA1_ENST00000545569.1_Splice_Site	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1						muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACTTACTCACCATGGTTGTC	0.468000													30	54					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566808	55566808	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr10:55566808C>T	ENST00000373965.2	-	36	4980	c.4586G>A	c.(4585-4587)tGt>tAt	p.C1529Y	PCDH15_ENST00000414778.1_Missense_Mutation_p.C1526Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	592					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)				GTTTCTCTGACATTCAGGAGC	0.418000										HNSCC(58;0.16)			8	9					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080033	152080033	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:152080033C>G	ENST00000368804.1	-	2	5659	c.5660G>C	c.(5659-5661)cGc>cCc	p.R1887P		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1887	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTGCTGGCGGCGGATGTG	0.557000													102	392					0	0	1	0	0
ELAC1	55520	broad.mit.edu	37	18	48500908	48500908	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr18:48500908T>C	ENST00000269466.3	+	2	241	c.134T>C	c.(133-135)cTt>cCt	p.L45P	SMAD4_ENST00000452201.2_5'UTR|ELAC1_ENST00000588577.1_Missense_Mutation_p.L45P|ELAC1_ENST00000591429.1_Missense_Mutation_p.L45P|RP11-729L2.2_ENST00000590722.2_Missense_Mutation_p.L45P|RP11-729L2.2_ENST00000588256.1_3'UTR	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	45					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		CAGACACAGCTTATGAAAAGC	0.483000													42	15					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206869685	206869685	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr2:206869685C>A	ENST00000403263.1	-	11	2895	c.2491G>T	c.(2491-2493)Gat>Tat	p.D831Y		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	831					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGCTCACTATCATAATGGCTT	0.502000													45	246					1.19451e-25	1.39898e-25	1	1	0
CENPJ	55835	broad.mit.edu	37	13	25480585	25480585	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr13:25480585C>G	ENST00000381884.4	-	7	1776	c.1591G>C	c.(1591-1593)Ggg>Cgg	p.G531R	CENPJ_ENST00000545981.1_Missense_Mutation_p.G531R	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	531					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTGGCCGGCCCTGTTGAAAGA	0.453000													26	92					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113470497	113470497	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr13:113470497C>G	ENST00000487903.1	+	6	630	c.542C>G	c.(541-543)gCc>gGc	p.A181G	ATP11A_ENST00000283558.8_Missense_Mutation_p.A181G|ATP11A_ENST00000375645.3_Missense_Mutation_p.A181G|ATP11A_ENST00000375630.2_Missense_Mutation_p.A181G			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	181					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(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GTCACCACCGCCAGCTTGGAT	0.562000													15	73					0	0	1	0	0
ZBTB25	7597	broad.mit.edu	37	14	64954352	64954352	+	Silent	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr14:64954352G>A	ENST00000394715.1	-	6	1298	c.597C>T	c.(595-597)ccC>ccT	p.P199P	ZBTB25_ENST00000261683.2_Silent_p.P199P|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	199						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TGGAAACTGGGGGCTTCTGGT	0.572000													106	158					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86037142	86037142	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:86037142G>C	ENST00000414626.2	+	7	2069	c.1180G>C	c.(1180-1182)Gac>Cac	p.D394H	LRRCC1_ENST00000360375.3_Missense_Mutation_p.D414H			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	414					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AATTAAAGTAGACCAAAGTCA	0.303000													6	151					0	0	1	0	0
PRSS23	11098	broad.mit.edu	37	11	86519507	86519507	+	Silent	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:86519507G>C	ENST00000280258.5	+	2	1247	c.822G>C	c.(820-822)ggG>ggC	p.G274G	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Silent_p.G242G	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	274					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCTGCCAGGGGGCAGAATTC	0.488000													4	151					0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171619	106171619	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:106171619G>T	ENST00000541806.1	+	2	680	c.161G>T	c.(160-162)tGt>tTt	p.C54F	CLDN2_ENST00000336803.1_Missense_Mutation_p.C54F|CLDN2_ENST00000540876.1_Missense_Mutation_p.C54F	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	54					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGGATGGAATGTGCCACACAC	0.567000													67	19					8.70839e-23	1.0108e-22	1	1	0
FBXO27	126433	broad.mit.edu	37	19	39517561	39517561	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:39517561G>C	ENST00000292853.4	-	5	776	c.657C>G	c.(655-657)ttC>ttG	p.F219L	FBXO27_ENST00000600828.1_Missense_Mutation_p.F218L|FBXO27_ENST00000509137.2_Missense_Mutation_p.F219L	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	219	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCACAGCAGAGAATTTATCTA	0.557000													82	307					0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44096357	44096357	+	Splice_Site	SNP	G	G	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:44096357G>T	ENST00000494774.1	+	5	350	c.327_splice	c.e5-1	p.G110_splice	DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Splice_Site_p.G15_splice|DBNL_ENST00000440166.1_Splice_Site_p.G7_splice|DBNL_ENST00000448521.1_Splice_Site_p.G110_splice|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000468694.1_Splice_Site_p.G110_splice|DBNL_ENST00000452943.1_Splice_Site_p.G85_splice	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	110	ADF-H.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CTGCTGCAGGGGGCCCATGTG	0.577000													8	57					1.08611e-07	1.17662e-07	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167787500	167787500	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:167787500G>A	ENST00000367848.1	-	31	4513	c.4016C>T	c.(4015-4017)gCc>gTc	p.A1339V	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.A1278V|ADCY10_ENST00000367851.4_Missense_Mutation_p.A1431V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1431					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTGAAGTCTGGCATACCTGCA	0.383000													22	17					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5751795	5751795	+	Silent	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:5751795G>A	ENST00000381624.3	+	12	1186	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	CATSPERD_ENST00000381614.2_Silent_p.A33A	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	375						integral to membrane											ATATCCAGGCGCTTCTCATGG	0.453000													15	22					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72338208	72338208	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr15:72338208G>C	ENST00000356056.5	-	2	1169	c.697C>G	c.(697-699)Cag>Gag	p.Q233E	MYO9A_ENST00000564571.1_Missense_Mutation_p.Q233E|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q233E|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q233E|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	233	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACGATGCACTGATTCTTTTTG	0.438000													4	145					0	0	1	0	0
PPTC7	160760	broad.mit.edu	37	12	110983768	110983768	+	Silent	SNP	T	T	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:110983768T>G	ENST00000354300.3	-	3	807	c.519A>C	c.(517-519)tcA>tcC	p.S173S		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	173	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GCTGCTCATCTGATCGGTGCA	0.562000													34	108					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71839934	71839934	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr2:71839934C>G	ENST00000258104.3	+	39	4608	c.4331C>G	c.(4330-4332)cCa>cGa	p.P1444R	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.P1445R|DYSF_ENST00000413539.2_Missense_Mutation_p.P1475R|DYSF_ENST00000410020.3_Missense_Mutation_p.P1462R|DYSF_ENST00000410041.1_Missense_Mutation_p.P1462R|DYSF_ENST00000409744.1_Missense_Mutation_p.P1431R|DYSF_ENST00000409762.1_Missense_Mutation_p.P1461R|DYSF_ENST00000409651.1_Missense_Mutation_p.P1476R|DYSF_ENST00000409582.3_Missense_Mutation_p.P1461R|DYSF_ENST00000429174.2_Missense_Mutation_p.P1444R|DYSF_ENST00000394120.2_Missense_Mutation_p.P1445R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1444						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGGGTGGCCCAGGTAGGGGA	0.622000													8	34					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251781	47251781	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:47251781T>C	ENST00000296861.2	-	3	1529	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	379					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCGGGGCCCCTTTTTCAGAGT	0.512000													3	114					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160281796	160281796	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:160281796C>T	ENST00000241704.7	-	11	1167	c.938G>A	c.(937-939)gGt>gAt	p.G313D	COPA_ENST00000368069.3_Missense_Mutation_p.G313D	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	313					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAATCATACCACCATCATG	0.448000													138	46					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094916	150094916	+	Silent	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:150094916C>T	ENST00000329630.5	+	3	1454	c.1347C>T	c.(1345-1347)aaC>aaT	p.N449N		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCATCTGCAACGAGTGCGGCA	0.736000													3	15					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													3	123					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545739	82545739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:82545739G>A	ENST00000423517.2	-	7	11900	c.11563C>T	c.(11563-11565)Cga>Tga	p.R3855*	PCLO_ENST00000437081.1_Nonsense_Mutation_p.R575*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.R3855*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3786	Gln-rich.				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						GTTCTTGGTCGCTCAATGCCA	0.468000													5	187					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54967430	54967430	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:54967430C>G	ENST00000243052.3	+	10	1437	c.1001C>G	c.(1000-1002)aCa>aGa	p.T334R	PDE1B_ENST00000538346.1_Missense_Mutation_p.T293R|PDE1B_ENST00000550620.1_Missense_Mutation_p.T314R|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	334	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GTGTTGGCCACAGACATGTCC	0.577000													46	191					0	0	1	0	0
METTL8	79828	broad.mit.edu	37	2	172195998	172195998	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr2:172195998A>G	ENST00000375258.3	-	4	517	c.302T>C	c.(301-303)tTc>tCc	p.F101S				B3KW44	B3KW44_HUMAN	methyltransferase like 8	101							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						ACGATCCTTGAAAAACTTATT	0.323000													16	58					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52156432	52156432	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:52156432G>C	ENST00000354534.5	+	15	2694	c.2516G>C	c.(2515-2517)gGg>gCg	p.G839A	SCN8A_ENST00000545061.1_Missense_Mutation_p.G839A|SCN8A_ENST00000550891.1_Missense_Mutation_p.G839A	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	839					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GACGTGGAGGGGCTTTCAGTG	0.398000													8	54					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211435	72211435	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:72211435G>C	ENST00000340726.3	-	9	1312	c.673C>G	c.(673-675)Cag>Gag	p.Q225E	EYA1_ENST00000388743.2_Missense_Mutation_p.Q224E|EYA1_ENST00000388742.4_Missense_Mutation_p.Q225E|EYA1_ENST00000419131.1_Missense_Mutation_p.Q220E|EYA1_ENST00000388740.3_Missense_Mutation_p.Q192E|EYA1_ENST00000388741.2_Missense_Mutation_p.Q191E|EYA1_ENST00000303824.7_Missense_Mutation_p.Q219E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	225					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGTGCGTACTGACCCTGGCCA	0.448000													31	303					0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76507446	76507446	+	Silent	SNP	G	G	A	rs147023916		TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:76507446G>A	ENST00000527881.1	+	2	1812	c.786G>A	c.(784-786)tcG>tcA	p.S262S	TSKU_ENST00000333090.4_Silent_p.S262S			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	262						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TGGACCTGTCGGGCAACCCCA	0.652000													17	259					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30791879	30791879	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr18:30791879T>G	ENST00000383096.3	-	20	2401	c.2219A>C	c.(2218-2220)aAa>aCa	p.K740T	CCDC178_ENST00000403303.1_Missense_Mutation_p.K740T|CCDC178_ENST00000402325.1_Missense_Mutation_p.K740T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.K740T|CCDC178_ENST00000406524.2_Missense_Mutation_p.K740T|CCDC178_ENST00000300227.8_Missense_Mutation_p.K702T|CCDC178_ENST00000579947.1_Missense_Mutation_p.K740T					coiled-coil domain containing 178																		TTGAAGAGTTTTTTGTCTTAC	0.323000													13	1					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34687642	34687642	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:34687642G>A	ENST00000544216.3	+	3	466	c.389G>A	c.(388-390)gGg>gAg	p.G130E	LSM14A_ENST00000540746.2_Missense_Mutation_p.G130E|LSM14A_ENST00000433627.5_Missense_Mutation_p.G130E	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	130					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TCCTTAGTTGGGCAGCAGTTT	0.413000													31	259					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346857	48346857	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:48346857G>A	ENST00000319856.4	+	1	386	c.365G>A	c.(364-366)tGc>tAc	p.C122Y		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TATGAGTGCTGCATGGCTCAG	0.458000													12	235					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455429	29455429	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:29455429A>G	ENST00000377127.3	-	1	309	c.251T>C	c.(250-252)cTg>cCg	p.L84P		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	84						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GAGGGAGACCAGCACAGCCTT	0.517000													10	136					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118703131	118703131	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr2:118703131T>A	ENST00000376300.2	-	17	1461	c.1324A>T	c.(1324-1326)Acc>Tcc	p.T442S	CCDC93_ENST00000319432.5_Missense_Mutation_p.T441S	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	442										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GAGGTCAAGGTACCAGGCGGC	0.517000													13	69					0	0	1	0	0
CCT2	10576	broad.mit.edu	37	12	69995079	69995079	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:69995079C>G	ENST00000543146.2	+	16	1923	c.1441C>G	c.(1441-1443)Cgt>Ggt	p.R481G	CCT2_ENST00000544368.2_Missense_Mutation_p.N480K|CCT2_ENST00000299300.6_Missense_Mutation_p.R528G	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	528					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCATAGGAAACGTGTCCCTGA	0.358000													35	56					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107807411	107807411	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:107807411C>T	ENST00000379028.3	-	30	3891	c.3421G>A	c.(3421-3423)Gac>Aac	p.D1141N	NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.D1141N|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.D1141N			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1141	Fibronectin type-III 5.			DSG -> GPR (in Ref. 8; CAA04507).	angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AAACCAGAGTCCCCCACAGCA	0.517000													3	43					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28337870	28337870	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr21:28337870G>A	ENST00000284987.5	-	1	962	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	281	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCATACAACCGCGCCATGGAC	0.682000													12	17					0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57065333	57065333	+	Silent	SNP	T	T	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:57065333T>C	ENST00000301318.3	+	8	1250	c.1179T>C	c.(1177-1179)caT>caC	p.H393H	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGAAAGTTCATAATCGTGATT	0.318000													12	28					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616407	116616407	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:116616407G>A	ENST00000395715.3	-	4	2366	c.1789C>T	c.(1789-1791)Ccg>Tcg	p.P597S	TRPS1_ENST00000520276.1_Missense_Mutation_p.P588S|TRPS1_ENST00000519674.1_Missense_Mutation_p.P584S|TRPS1_ENST00000220888.5_Missense_Mutation_p.P584S|TRPS1_ENST00000519076.1_Intron	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	584					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAAGCAAACGGATAAGTAATT	0.468000									Langer-Giedion syndrome				15	10					0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2343291	2343291	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:2343291A>C	ENST00000334651.5	-	2	216	c.164T>G	c.(163-165)aTt>aGt	p.I55S		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	55							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGAATAGCCAATGCCATCTGT	0.418000													29	221					0	0	1	0	0
HSD17B14	51171	broad.mit.edu	37	19	49339644	49339644	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:49339644C>A	ENST00000263278.4	-	1	291	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	HSD17B14_ENST00000599157.1_Missense_Mutation_p.G9W	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	9					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-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;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		ACCACCTTCCCGGCATAGCGC	0.662000											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	79					1	1	1	1	0
DHX30	22907	broad.mit.edu	37	3	47887313	47887313	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr3:47887313C>G	ENST00000446256.2	+	11	1518	c.946C>G	c.(946-948)Ctc>Gtc	p.L316V	DHX30_ENST00000348968.4_Missense_Mutation_p.L327V|DHX30_ENST00000457607.1_Missense_Mutation_p.L383V|DHX30_ENST00000445061.1_Missense_Mutation_p.L355V	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	355						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CGAGCCCATCCTCCGCAAGAT	0.592000													14	63					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61768563	61768563	+	Silent	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:61768563C>T	ENST00000423902.2	+	33	7445	c.6966C>T	c.(6964-6966)aaC>aaT	p.N2322N	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2322					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCTTAGACAACATCTGTGAAG	0.418000													6	42					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518563	129518563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:129518563G>A	ENST00000276218.2	-	1	948	c.859C>T	c.(859-861)Cga>Tga	p.R287*		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	287						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGCTGCAGTCGCACCTCCTTC	0.582000													20	35					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211369	72211369	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:72211369G>T	ENST00000340726.3	-	9	1378	c.739C>A	c.(739-741)Cca>Aca	p.P247T	EYA1_ENST00000388743.2_Missense_Mutation_p.P246T|EYA1_ENST00000388742.4_Missense_Mutation_p.P247T|EYA1_ENST00000419131.1_Missense_Mutation_p.P242T|EYA1_ENST00000388740.3_Missense_Mutation_p.P214T|EYA1_ENST00000388741.2_Missense_Mutation_p.P213T|EYA1_ENST00000303824.7_Missense_Mutation_p.P241T	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	247					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GGTGTCGTTGGGCTGGTGTTG	0.498000													18	338					1.80694e-10	1.97397e-10	1	1	0
TCF19	6941	broad.mit.edu	37	6	31129289	31129289	+	Silent	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:31129289C>T	ENST00000376257.3	+	3	1058	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Silent_p.L102L	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	102					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TGGAGACCTCCTGACCTTTGG	0.532000													61	169					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846459	47846459	+	Silent	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:47846459G>A	ENST00000339488.4	-	3	2154	c.2121C>T	c.(2119-2121)aaC>aaT	p.N707N		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	707						integral to membrane	hedgehog receptor activity										CCATGTCGACGTTCCATAATG	0.438000													3	14					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130842043	130842043	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:130842043G>A	ENST00000245255.3	+	14	1882	c.1610G>A	c.(1609-1611)aGa>aAa	p.R537K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	537					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.R537K(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GTGGATGACAGAACTGAAGCC	0.423000													3	65					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116426706	116426706	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:116426706C>T	ENST00000395715.3	-	7	4007	c.3430G>A	c.(3430-3432)Gtg>Atg	p.V1144M	TRPS1_ENST00000520276.1_Missense_Mutation_p.V1135M|TRPS1_ENST00000220888.5_Missense_Mutation_p.V1131M|TRPS1_ENST00000519076.1_Missense_Mutation_p.V885M	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1131	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGGCCAGGCACGTGACTCAAG	0.468000									Langer-Giedion syndrome				4	15					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45214564	45214564	+	Missense_Mutation	SNP	A	A	T	rs78525224		TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr17:45214564A>T	ENST00000066544.3	-	14	1960	c.1867T>A	c.(1867-1869)Tgt>Agt	p.C623S	CDC27_ENST00000446365.2_Missense_Mutation_p.C562S|CDC27_ENST00000531206.1_Missense_Mutation_p.C629S|CDC27_ENST00000527547.1_Missense_Mutation_p.C622S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	623					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTTCGAAAACAAGCTAATGCT	0.378000													3	42					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86025203	86025203	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:86025203G>A	ENST00000414626.2	+	3	1242	c.353G>A	c.(352-354)aGa>aAa	p.R118K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R138K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	138					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CATAAACTTAGATATATTGAT	0.328000													35	172					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211333	72211333	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:72211333G>C	ENST00000340726.3	-	9	1414	c.775C>G	c.(775-777)Caa>Gaa	p.Q259E	EYA1_ENST00000388743.2_Missense_Mutation_p.Q258E|EYA1_ENST00000388742.4_Missense_Mutation_p.Q259E|EYA1_ENST00000419131.1_Missense_Mutation_p.Q254E|EYA1_ENST00000388740.3_Missense_Mutation_p.Q226E|EYA1_ENST00000388741.2_Missense_Mutation_p.Q225E|EYA1_ENST00000303824.7_Missense_Mutation_p.Q253E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	259					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GGCGGTTCTTGAAGCTGGTAA	0.458000													11	324					0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30741037	30741037	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr22:30741037C>T	ENST00000439242.1	-	4	472	c.341G>A	c.(340-342)cGc>cAc	p.R114H	SF3A1_ENST00000215793.7_Missense_Mutation_p.R179H	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CAGAAACTGGCGCCCATTCCT	0.532000													58	88					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105600946	105600946	+	Missense_Mutation	SNP	G	G	A	rs143266379		TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:105600946G>A	ENST00000258530.3	-	8	739	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W	APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000551662.1_Missense_Mutation_p.R178W|APPL2_ENST00000539978.2_Missense_Mutation_p.R129W	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	172	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGCTGCTTCCGCCGGGCCGCG	0.517000													3	75					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915076	176915076	+	Silent	SNP	C	C	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:176915076C>G	ENST00000367654.2	-	13	2272	c.2259G>C	c.(2257-2259)ctG>ctC	p.L753L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.L745L|ASTN1_ENST00000424564.2_Silent_p.L745L|ASTN1_ENST00000367657.3_Silent_p.L745L			O14525	ASTN1_HUMAN	astrotactin 1	753					cell migration|neuron cell-cell adhesion	integral to membrane		p.Q743fs*11(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATGTTCCTTTCAGCACCTGTC	0.448000													26	448					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24208786	24208786	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:24208786G>A	ENST00000265769.4	+	20	2251	c.2141G>A	c.(2140-2142)aGg>aAg	p.R714K	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.E462E|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	714					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAACAGAAGAGGAAACCCCAG	0.478000													26	68					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60582692	60582692	+	Splice_Site	SNP	C	C	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr20:60582692C>A	ENST00000252996.3	-	6	1884	c.1884_splice	c.e6-1	p.D629_splice		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	629	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATTTTTCCATCCTTAAAAATA	0.393000													4	100					0.150653	0.151821	1	1	0
GIMAP7	168537	broad.mit.edu	37	7	150217476	150217476	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:150217476G>T	ENST00000313543.4	+	2	571	c.414G>T	c.(412-414)gaG>gaT	p.E138D		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	138							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGTTGGAGGGCCAGAGCT	0.512000													16	53					5.35267e-07	5.7508e-07	1	1	0
C4orf19	55286	broad.mit.edu	37	4	37591786	37591786	+	Missense_Mutation	SNP	G	G	A	rs111504567		TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr4:37591786G>A	ENST00000284437.6	+	3	287	c.109G>A	c.(109-111)Gac>Aac	p.D37N	C4orf19_ENST00000381980.4_Missense_Mutation_p.D37N|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	37										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGATGAAGACGACACTGATAA	0.458000													64	250					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86025211	86025211	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:86025211G>T	ENST00000414626.2	+	3	1250	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	LRRCC1_ENST00000360375.3_Missense_Mutation_p.D141Y			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	141				I -> V (in Ref. 5; AAH30701).	cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TAGATATATTGATCTACATAG	0.348000													40	177					6.1244e-12	6.80489e-12	1	1	0
KBTBD2	25948	broad.mit.edu	37	7	32909536	32909536	+	Silent	SNP	A	A	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:32909536A>G	ENST00000304056.4	-	4	1992	c.1293T>C	c.(1291-1293)atT>atC	p.I431I	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	431										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TCATCACATAAATGCAGTCAT	0.458000													20	102					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211356	72211356	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:72211356G>A	ENST00000340726.3	-	9	1391	c.752C>T	c.(751-753)tCc>tTc	p.S251F	EYA1_ENST00000388743.2_Missense_Mutation_p.S250F|EYA1_ENST00000388742.4_Missense_Mutation_p.S251F|EYA1_ENST00000419131.1_Missense_Mutation_p.S246F|EYA1_ENST00000388740.3_Missense_Mutation_p.S218F|EYA1_ENST00000388741.2_Missense_Mutation_p.S217F|EYA1_ENST00000303824.7_Missense_Mutation_p.S245F	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	251					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.S251F(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GGCATTGGTGGATGGTGTCGT	0.478000													11	338					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231094024	231094024	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:231094024C>T	ENST00000366661.4	-	3	395	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	TTC13_ENST00000366662.4_Missense_Mutation_p.E130K|TTC13_ENST00000414259.1_Missense_Mutation_p.E130K	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	130							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTCTTCTGTTCTGCAATAGAC	0.333000													3	48					0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161512967	161512967	+	Silent	SNP	T	T	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:161512967T>A	ENST00000367969.3	-	5	891	c.708A>T	c.(706-708)tcA>tcT	p.S236S	FCGR3A_ENST00000443193.1_Silent_p.S235S|FCGR3A_ENST00000436743.1_Silent_p.S200S|FCGR3A_ENST00000540048.1_Silent_p.S200S	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	200					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAAGAATGATGAGATGGTTG	0.423000													8	381					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243471466	243471466	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:243471466G>C	ENST00000366541.3	+	8	1034	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E263Q|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.E306Q|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E161Q	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	306	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GCAGACCATCGAAAGACTGGT	0.423000													58	154					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61938923	61938923	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr20:61938923G>T	ENST00000422202.1	+	5	667	c.599G>T	c.(598-600)aGt>aTt	p.S200I	COL20A1_ENST00000326996.6_Missense_Mutation_p.S193I|COL20A1_ENST00000358894.6_Missense_Mutation_p.S193I|COL20A1_ENST00000435874.1_Missense_Mutation_p.S200I			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	193	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ATTGGCCACAGTCACTTCCAG	0.667000													22	83					4.16121e-05	4.36256e-05	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136474	40136474	+	Missense_Mutation	SNP	C	C	T	rs138717868		TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:40136474C>T	ENST00000278198.2	-	2	3332	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I	LRRC4C_ENST00000527150.1_Missense_Mutation_p.V457I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.V457I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.V457I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	457					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCTACTGTGACGGTTGAAAAG	0.493000													29	51					0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474054	145474054	+	Silent	SNP	C	C	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:145474054C>G	ENST00000323397.4	+	4	2019	c.726C>G	c.(724-726)ctC>ctG	p.L242L		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	242	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAAAACCACTCAAAAGGCTCA	0.607000													98	270					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67578658	67578658	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr16:67578658C>T	ENST00000540839.3	+	17	3071	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W	FAM65A_ENST00000379312.3_Missense_Mutation_p.R936W|FAM65A_ENST00000428437.2_Missense_Mutation_p.R946W|FAM65A_ENST00000422602.2_Missense_Mutation_p.R952W|FAM65A_ENST00000042381.4_Missense_Mutation_p.R932W			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	936						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCGGCTGCTGCGGGAAGCCCG	0.657000													18	132					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931649	144931649	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:144931649G>C	ENST00000529945.1	-	1	499	c.60C>G	c.(58-60)atC>atG	p.I20M	PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.I20M|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCGTGTGGAAGATCCAGCGCC	0.607000			T	PDGFRB	MPD								4	120					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41801438	41801438	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:41801438G>C	ENST00000396930.3	-	14	2599	c.2056C>G	c.(2056-2058)Ctg>Gtg	p.L686V	KAT6A_ENST00000406337.1_Missense_Mutation_p.L686V|KAT6A_ENST00000265713.2_Missense_Mutation_p.L686V|KAT6A_ENST00000485568.1_Missense_Mutation_p.L686V	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	686	Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										AGACGACCCAGATCAGATAAC	0.393000													16	59					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	RNA	SNP	A	A	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522000													4	121					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89298451	89298451	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:89298451G>A	ENST00000370521.3	+	20	2946	c.2587G>A	c.(2587-2589)Gag>Aag	p.E863K	PKN2_ENST00000370513.5_Missense_Mutation_p.E815K|PKN2_ENST00000370505.3_Missense_Mutation_p.E706K|PKN2_ENST00000544045.1_Missense_Mutation_p.E537K	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	863	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGATGATGAAGAGGAAGTTTT	0.338000													24	66					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113664682	113664682	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:113664682G>C	ENST00000550785.1	+	3	410	c.241G>C	c.(241-243)Gtg>Ctg	p.V81L	TPCN1_ENST00000541517.1_Missense_Mutation_p.V81L|TPCN1_ENST00000335509.6_Missense_Mutation_p.V9L	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	9						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGATGACGACGTGCCGCTCAT	0.542000													13	76					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102818680	102818680	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:102818680G>C	ENST00000260302.3	-	8	1179	c.1151C>G	c.(1150-1152)gCa>gGa	p.A384G	MMP13_ENST00000340273.4_Missense_Mutation_p.A384G	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	384	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTGAACAGCTGCACTTATCTT	0.433000													9	112					0	0	1	0	0
MAD2L1BP	9587	broad.mit.edu	37	6	43608100	43608100	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:43608100C>A	ENST00000451025.2	+	4	961	c.751C>A	c.(751-753)Cgc>Agc	p.R251S	MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.R219S	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	219					mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding			breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ACAGGGACACCGCAACTGTGG	0.557000													8	108					0.000673444	0.000694823	1	1	0
TENM4	26011	broad.mit.edu	37	11	78381398	78381398	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:78381398G>C	ENST00000278550.7	-	32	6454	c.5992C>G	c.(5992-5994)Ctc>Gtc	p.L1998V		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GTGTGAAGGAGGTGCCCATCC	0.537000													6	65					0	0	1	0	0
AC012363.13	0	broad.mit.edu	37	2	121080891	121080893	+	RNA	DEL	CCT	CCT	-	rs138298647	by1000genomes	TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr2:121080891_121080893delCCT	ENST00000437837.1	+	0	132																											CTGCCTCCCCCCTCCTCCTCCTC	0.542													3	5	---	---	---	---					
GBA3	57733	broad.mit.edu	37	4	22820325	22820326	+	RNA	INS	-	-	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr4:22820325_22820326insT	ENST00000508166.1	+	0	1309				GBA3_ENST00000508264.1_RNA|GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATAATTTTCTTTTTTTTTAA	0.401													3	5	---	---	---	---					
ANKS1A	23294	broad.mit.edu	37	6	34951143	34951143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:34951143delC	ENST00000360359.3	+	7	1091	c.953delC	c.(952-954)acfs	p.T318fs	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	318						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTAGATAAAACCCCCCCACCC	0.418													7	799	---	---	---	---					
METTL24	728464	broad.mit.edu	37	6	110679166	110679166	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:110679166delG	ENST00000338882.4	-	1	309	c.310delC	c.(310-312)gcfs	p.R105fs	METTL24_ENST00000490043.1_5'UTR	NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	105						extracellular region											ACCTTccggcgggggcgcccg	0.786													2	4	---	---	---	---					
LOC101927609	101927609	broad.mit.edu	37	7	17338218	17338218	+	RNA	DEL	C	C	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:17338218delC	ENST00000433005.1	-	0	298																											cggggcggggccggtgagggg	0.726													2	4	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	12946210	12946211	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:12946210_12946211insCA	ENST00000276297.4	-	16	4486_4487	c.4077_4078insTG	c.(4075-4080)gtgcgafs	p.R1360fs	DLC1_ENST00000512044.2_Frame_Shift_Ins_p.R957fs|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Frame_Shift_Ins_p.R923fs|DLC1_ENST00000520226.1_Frame_Shift_Ins_p.R849fs	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1360	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGTCCTTCGCTCACCTGGAAAG	0.436													33	59	---	---	---	---					
INPPL1	3636	broad.mit.edu	37	11	71948209	71948209	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:71948209delC	ENST00000541756.1	+	26	3125	c.2195delC	c.(2194-2196)gcfs	p.A732fs	INPPL1_ENST00000298229.2_Frame_Shift_Del_p.A974fs|INPPL1_ENST00000538751.1_Frame_Shift_Del_p.A732fs			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	974					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGGGTGGCGGCCCCCCCACCC	0.637													7	643	---	---	---	---					
MIR381HG	378881	broad.mit.edu	37	14	101513129	101513130	+	RNA	INS	-	-	TGG	rs60759868	by1000genomes	TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr14:101513129_101513130insTGG	ENST00000553692.1	+	0	28																											GAAACTATCATtggtggtggtg	0.515													5	8	---	---	---	---					
TECPR2	9895	broad.mit.edu	37	14	102901462	102901462	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr14:102901462delA	ENST00000359520.7	+	9	2534	c.2308delA	c.(2308-2310)gtfs	p.S770fs	TECPR2_ENST00000558678.1_Frame_Shift_Del_p.S770fs	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	770							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CTCAGAGACGAGTGTGACAGA	0.607													30	138	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120		TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr16:29113498delT	ENST00000564580.1	+	0	1360																											AGGAGGTGGAttttttttttc	0.542													10	15	---	---	---	---					
SGSM2	9905	broad.mit.edu	37	17	2281207	2281209	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr17:2281207_2281209delCTA	ENST00000268989.3	+	22	3036_3038	c.2859_2861delCTA	c.(2857-2862)ttc>tt	p.FY953del	SGSM2_ENST00000426855.2_In_Frame_Del_p.FY908del|SGSM2_ENST00000574563.1_In_Frame_Del_p.FY908del|RP1-59D14.5_ENST00000574290.1_RNA	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	908						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ACACCCACTTCTACTTCTGTTAT	0.522													19	140	---	---	---	---					
YBX2	51087	broad.mit.edu	37	17	7193599	7193599	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr17:7193599delG	ENST00000007699.5	-	5	778	c.715delC	c.(715-717)ggfs	p.R239fs		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	239	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TTGGGAGGCCGGGGGCCTCGC	0.622													7	394	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40433822	40433822	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:40433822delG	ENST00000221347.6	-	2	454	c.447delC	c.(445-447)ccfs	p.P149fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	149	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGAGGTGCCGGGGGGTGTGA	0.607													8	146	---	---	---	---					
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)del	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557													11	208	---	---	---	---					
