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
PPP2R3C	55012	broad.mit.edu	37	14	35577291	35577291	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:35577291A>C	ENST00000555644.1	-	5	909	c.556T>G	c.(556-558)Tgg>Ggg	p.W186G	PPP2R3C_ENST00000261475.5_Intron			Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	431						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		AGCACAGACCAAAAACCTACT	0.323000													8	29					0	0	0.003080	0	0
ENPP3	5169	broad.mit.edu	37	6	131958601	131958601	+	Splice_Site	SNP	T	T	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:131958601T>A	ENST00000414305.1	+	2	405	c.78_splice	c.e2+1	p.I26_splice	ENPP3_ENST00000358229.5_Splice_Site_p.I26_splice|ENPP3_ENST00000427148.2_5'UTR|ENPP3_ENST00000357639.3_Splice_Site_p.I26_splice|ENPP3_ENST00000543135.1_5'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	26					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATAGCTTGCATTGTAAGTACA	0.313000													28	23					0	0	0.005443	0	0
KIAA1429	25962	broad.mit.edu	37	8	95539167	95539167	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:95539167G>A	ENST00000297591.5	-	8	1380	c.1305C>T	c.(1303-1305)acC>acT	p.T435T	KIAA1429_ENST00000437199.1_Silent_p.T435T|KIAA1429_ENST00000421249.2_Silent_p.T435T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	435					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAGCTTGCATGGTCCAGTCTA	0.398000													56	55					0	0	0.003610	0	0
EPHB6	2051	broad.mit.edu	37	7	142563272	142563272	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:142563272C>T	ENST00000392957.2	+	8	1776	c.989C>T	c.(988-990)cCc>cTc	p.P330L	EPHB6_ENST00000411471.2_Missense_Mutation_p.P53L|EPHB6_ENST00000442129.1_Missense_Mutation_p.P330L	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	330	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGGAATGCTCCCTGCTCACCA	0.662000													15	29					0	0	0.004007	0	0
RAD17	5884	broad.mit.edu	37	5	68695977	68695977	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:68695977C>T	ENST00000509734.1	+	16	2385	c.1707C>T	c.(1705-1707)acC>acT	p.T569T	RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Silent_p.T558T|RAD17_ENST00000345306.6_Silent_p.T558T|RAD17_ENST00000380774.3_Silent_p.T569T|RAD17_ENST00000354868.5_Silent_p.T558T|RAD17_ENST00000361732.2_Silent_p.T558T|RAD17_ENST00000521422.1_Silent_p.T393T|RAD17_ENST00000358030.2_Silent_p.T393T|RAD17_ENST00000282891.6_Silent_p.T472T|RAD17_ENST00000305138.4_Silent_p.T558T			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	569	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CTCTACTAACCATTCCAATGA	0.353000								Other conserved DNA damage response genes					7	25					0	0	0.004482	0	0
LIMA1	51474	broad.mit.edu	37	12	50642531	50642531	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:50642531C>T	ENST00000341247.4	-	2	153	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	LIMA1_ENST00000394943.3_Missense_Mutation_p.E2K	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	2					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGAGATGATTCCATCTTGTCT	0.408000													26	83					0	0	0.001786	0	0
NPAS1	4861	broad.mit.edu	37	19	47542741	47542741	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:47542741C>T	ENST00000602212.1	+	8	1101	c.881C>T	c.(880-882)cCc>cTc	p.P294L	NPAS1_ENST00000602189.1_Missense_Mutation_p.P119L|NPAS1_ENST00000439365.2_Missense_Mutation_p.P118L|NPAS1_ENST00000449844.2_Missense_Mutation_p.P294L			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	294	PAS 2.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCCCCGGCCCCCCTGGCTGAG	0.667000													6	37					0	0	0.001984	0	0
TRPM7	54822	broad.mit.edu	37	15	50884498	50884498	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:50884498G>A	ENST00000313478.7	-	26	4215	c.3934C>T	c.(3934-3936)Cct>Tct	p.P1312S	TRPM7_ENST00000560955.1_Missense_Mutation_p.P1312S	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1312					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CAATGAAAAGGATTATTACTT	0.343000													14	44					0	0	0.001855	0	0
POTEF	728378	broad.mit.edu	37	2	130832375	130832375	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:130832375C>T	ENST00000357462.5	-	15	2763	c.2670G>A	c.(2668-2670)atG>atA	p.M890I	POTEF_ENST00000409914.2_Missense_Mutation_p.M890I			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	890	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGAGGATCTTCATGAGGTAGT	0.592000													6	114					0	0	0.001168	0	0
CNOT4	4850	broad.mit.edu	37	7	135099148	135099148	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:135099148G>A	ENST00000428680.2	-	5	772	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	CNOT4_ENST00000315544.5_Missense_Mutation_p.R165W|CNOT4_ENST00000451834.1_Missense_Mutation_p.R165W|CNOT4_ENST00000541284.1_Missense_Mutation_p.R165W|CNOT4_ENST00000356162.4_Missense_Mutation_p.R165W|CNOT4_ENST00000361528.4_Missense_Mutation_p.R165W|CNOT4_ENST00000423368.2_Missense_Mutation_p.R165W|CNOT4_ENST00000414802.1_Missense_Mutation_p.R165W	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	165	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TCTTCTGACCGGATATAGGTT	0.353000													5	244					0	0	0.001168	0	0
PLA1A	51365	broad.mit.edu	37	3	119334882	119334882	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:119334882G>A	ENST00000273371.4	+	6	760	c.688G>A	c.(688-690)Gga>Aga	p.G230R	PLA1A_ENST00000488919.1_Missense_Mutation_p.G57R|PLA1A_ENST00000494440.1_Missense_Mutation_p.G214R|PLA1A_ENST00000495992.1_Missense_Mutation_p.G214R	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	230					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATTCCCGTTGGACATGTGGA	0.517000													13	26					0	0	0.003163	0	0
PLCE1	51196	broad.mit.edu	37	10	95931163	95931163	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:95931163C>T	ENST00000260766.3	+	4	2353	c.1719C>T	c.(1717-1719)ccC>ccT	p.P573P	PLCE1_ENST00000371380.2_Silent_p.P573P|PLCE1_ENST00000371385.3_Silent_p.P265P|PLCE1_ENST00000371375.1_Silent_p.P265P	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	573	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCTCCTTGCCCTGCCTCAAAG	0.507000													31	79					0	0	0.007291	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325570	150325570	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:150325570C>T	ENST00000328902.5	-	3	332	c.116G>A	c.(115-117)aGg>aAg	p.R39K	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	39							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCAGTCTCCTTGGGGTCTT	0.517000													133	284					0	0	0.003610	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250842	24250842	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:24250842A>G	ENST00000538205.1	+	4	585	c.38A>G	c.(37-39)cAa>cGa	p.Q13R	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.Q92R|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.Q13R	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	92					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTCTCCCTACAAAAAACCAAG	0.338000													8	32					0	0	0.004482	0	0
TENM2	57451	broad.mit.edu	37	5	167642052	167642052	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:167642052C>T	ENST00000519204.1	+	20	3608	c.3490C>T	c.(3490-3492)Cca>Tca	p.P1164S	TENM2_ENST00000518659.1_Missense_Mutation_p.P1285S|TENM2_ENST00000545108.1_Missense_Mutation_p.P1284S|TENM2_ENST00000403607.2_Missense_Mutation_p.P1109S|TENM2_ENST00000520394.1_Missense_Mutation_p.P1046S					teneurin transmembrane protein 2																		AAGCAACAACCCAGCACACAA	0.517000													4	22					0	0	0.000248	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													44	609					0	0	0.003610	0	0
HTT	3064	broad.mit.edu	37	4	3208296	3208296	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:3208296C>T	ENST00000355072.5	+	43	5937	c.5792C>T	c.(5791-5793)tCc>tTc	p.S1931F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1931					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATCAGCCTTTCCCACGAGCCT	0.473000													15	32					0	0	0.003163	0	0
YARS2	51067	broad.mit.edu	37	12	32900275	32900275	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:32900275C>T	ENST00000324868.8	-	5	1324	c.1297G>A	c.(1297-1299)Gga>Aga	p.G433R	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	433					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ATGCTGACTCCGCCTTCTGTT	0.348000													21	49					0	0	0.003954	0	0
CD300A	11314	broad.mit.edu	37	17	72470746	72470746	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:72470746C>T	ENST00000360141.3	+	3	743	c.455C>T	c.(454-456)tCa>tTa	p.S152L	CD300A_ENST00000392625.3_Missense_Mutation_p.S39L|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Missense_Mutation_p.S22L|CD300A_ENST00000310828.5_Missense_Mutation_p.S39L	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	152					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CCACCTGTATCATCCACTACC	0.527000													46	45					0	0	0.002852	0	0
OTOF	9381	broad.mit.edu	37	2	26700578	26700578	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:26700578C>T	ENST00000272371.2	-	19	2380	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	OTOF_ENST00000338581.6_Missense_Mutation_p.E5K|OTOF_ENST00000339598.3_Missense_Mutation_p.E5K|OTOF_ENST00000403946.3_Missense_Mutation_p.E752K|OTOF_ENST00000402415.3_Missense_Mutation_p.E62K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	752					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGACTTCTCCGTTTTGATC	0.632000													11	34					0	0	0.008291	0	0
ELF5	2001	broad.mit.edu	37	11	34502418	34502418	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:34502418C>T	ENST00000312319.2	-	6	831	c.602G>A	c.(601-603)gGa>gAa	p.G201E	ELF5_ENST00000429939.2_Missense_Mutation_p.G96E|ELF5_ENST00000257832.2_Missense_Mutation_p.G191E	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	201					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CCGAAAAATTCCTTGTTCCCT	0.443000													49	40					0	0	0.003610	0	0
DNM3	26052	broad.mit.edu	37	1	172017777	172017777	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:172017777G>A	ENST00000358155.4	+	10	1398	c.1222G>A	c.(1222-1224)Gca>Aca	p.A408T	DNM3_ENST00000355305.5_Missense_Mutation_p.A408T|DNM3_ENST00000367733.2_Missense_Mutation_p.A408T|DNM3_ENST00000520906.1_Missense_Mutation_p.A408T|DNM3_ENST00000367731.1_Missense_Mutation_p.A408T	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	408					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCCAGACATGGCATTTGAAGC	0.353000													9	49					0	0	0.006214	0	0
PARP14	54625	broad.mit.edu	37	3	122419650	122419650	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:122419650C>G	ENST00000474629.2	+	6	2515	c.2249C>G	c.(2248-2250)gCc>gGc	p.A750G		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAGCCAGGAGCCAAGCAGTTC	0.428000													17	18					0	0	0.004007	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090463	238090463	+	RNA	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:238090463C>T	ENST00000450451.1	+	0	1969					NR_027247.2																						CTGCCCGAACCCCAAGGCCAA	0.582000													20	15					0	0	0.001882	0	0
CRLF1	9244	broad.mit.edu	37	19	18707559	18707559	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:18707559G>A	ENST00000392386.3	-	6	1090	c.897C>T	c.(895-897)gcC>gcT	p.A299A		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	299	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GTTTCAGGCCGGCCAGGCGGC	0.642000													20	17					0	0	0.008871	0	0
NBAS	51594	broad.mit.edu	37	2	15615855	15615855	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:15615855G>A	ENST00000281513.5	-	14	1322	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S	NBAS_ENST00000441750.1_Missense_Mutation_p.P433S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	433										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTGACTTGAGGTGATGGTTCA	0.368000													16	30					0	0	0.008871	0	0
CPED1	79974	broad.mit.edu	37	7	120935499	120935499	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:120935499G>A	ENST00000310396.5	+	23	3341	c.2874G>A	c.(2872-2874)gtG>gtA	p.V958V		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TACAGGTAGTGAAATCAAAGT	0.328000													5	8					0	0	0.000602	0	0
OR2L2	26246	broad.mit.edu	37	1	248201713	248201713	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:248201713C>T	ENST00000366479.2	+	1	240	c.144C>T	c.(142-144)atC>atT	p.I48I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCTTCTCATCTTTTTGGACA	0.393000													55	237					0	0	0.003610	0	0
IFNA1	3439	broad.mit.edu	37	9	21441071	21441071	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:21441071G>A	ENST00000276927.1	+	1	632	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	189					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		AAGGAGGAAGGAATAACATCT	0.408000													45	85					0	0	0.003610	0	0
DTNBP1	84062	broad.mit.edu	37	6	15533539	15533539	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:15533539T>A	ENST00000338950.5	-	8	704	c.599A>T	c.(598-600)gAg>gTg	p.E200V	DTNBP1_ENST00000462989.2_Missense_Mutation_p.E44V|DTNBP1_ENST00000344537.5_Missense_Mutation_p.E200V|DTNBP1_ENST00000355917.3_Missense_Mutation_p.E201V	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	200	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GAAGGCTTCCTCAAAAAACTT	0.577000									Hermansky-Pudlak syndrome				65	56					0	0	0.003610	0	0
C10orf10	11067	broad.mit.edu	37	10	45473421	45473421	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:45473421C>T	ENST00000298295.3	-	2	275	c.58G>A	c.(58-60)Gag>Aag	p.E20K	C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	20						mitochondrion				lung(1)	1						AGCATCTCCTCCGTGGTCTCC	0.607000													22	80					0	0	0.002780	0	0
RANBP3L	202151	broad.mit.edu	37	5	36253797	36253797	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:36253797T>C	ENST00000296604.3	-	12	1604	c.1119A>G	c.(1117-1119)atA>atG	p.I373M	RANBP3L_ENST00000502994.1_Missense_Mutation_p.I398M	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	373	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CAGTAGCTGTTATTCGTACAT	0.348000													23	57					0	0	0.001882	0	0
MORC1	27136	broad.mit.edu	37	3	108776192	108776192	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:108776192G>A	ENST00000232603.5	-	13	1255	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	MORC1_ENST00000483760.1_Silent_p.S391S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	391					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATACTCACAAGGACTTCAGTT	0.393000													20	55					0	0	0.002780	0	0
IGHV3-35	28432	broad.mit.edu	37	14	106845747	106845747	+	RNA	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:106845747G>A	ENST00000390617.2	-	0	42																											ATAGCAGCAAGAAAAACCCAG	0.448000													19	58					0	0	0.008871	0	0
PLCE1	51196	broad.mit.edu	37	10	95791914	95791914	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:95791914C>T	ENST00000260766.3	+	2	1745	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	PLCE1_ENST00000371380.2_Missense_Mutation_p.P371S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	371					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGAAATGGTCCCTTACTGCC	0.488000													10	30					0	0	0.008291	0	0
FRG1B	284802	broad.mit.edu	37	20	29625895	29625895	+	Missense_Mutation	SNP	G	G	A	rs76435412	by1000genomes	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:29625895G>A	ENST00000278882.3	+	5	519	c.139G>A	c.(139-141)Gga>Aga	p.G47R	FRG1B_ENST00000358464.4_Missense_Mutation_p.G47R|FRG1B_ENST00000439954.2_Missense_Mutation_p.G52R																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATCTGGCTATGGAAAATATCT	0.343000													7	58					0	0	0.008291	0	0
OR1D2	4991	broad.mit.edu	37	17	2995981	2995981	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:2995981G>A	ENST00000331459.1	-	1	309	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	104					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AAGGAGACCAGGAAGTAGAGC	0.547000													69	75					0	0	0.003610	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230725	69230725	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:69230725G>A	ENST00000542259.1	-	22	2465	c.2014C>T	c.(2014-2016)Ctc>Ttc	p.L672F	FRMD4B_ENST00000478263.1_Missense_Mutation_p.L378F|FRMD4B_ENST00000398540.3_Missense_Mutation_p.L726F			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	726						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CCGTCATCGAGGATTTCTGTG	0.522000													37	76					0	0	0.004878	0	0
DSC1	1823	broad.mit.edu	37	18	28725700	28725700	+	Silent	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr18:28725700T>C	ENST00000257197.3	-	7	1074	c.813A>G	c.(811-813)gaA>gaG	p.E271E	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.E271E	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	271	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAGTGTCAGGTTCGTCAAGGT	0.378000													20	55					0	0	0.002780	0	0
NF1	4763	broad.mit.edu	37	17	29557909	29557909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:29557909C>T	ENST00000358273.4	+	24	3546	c.3163C>T	c.(3163-3165)Caa>Taa	p.Q1055*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1055*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1055					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACATCAAACCAAGCAGCAGA	0.353000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	8					0	0	0.004672	0	0
LTA4H	4048	broad.mit.edu	37	12	96415987	96415987	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:96415987G>A	ENST00000228740.2	-	5	664	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C	LTA4H_ENST00000413268.2_Missense_Mutation_p.R151C|LTA4H_ENST00000552789.1_Missense_Mutation_p.R151C	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	175					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TCTCCATCACGAATAGCACTC	0.378000													8	25					0	0	0.000978	0	0
PKLR	5313	broad.mit.edu	37	1	155264147	155264147	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:155264147C>T	ENST00000392414.3	-	7	1015	c.902G>A	c.(901-903)gGc>gAc	p.G301D	PKLR_ENST00000342741.4_Missense_Mutation_p.G332D	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	332					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.G332V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CACCATGATGCCGTCGCTCAC	0.572000													7	39					0	0	0.001984	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224866	42224866	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:42224866C>T	ENST00000221992.6	+	8	1910	c.1796C>T	c.(1795-1797)tCc>tTc	p.S599F	CEACAM5_ENST00000398599.4_Missense_Mutation_p.S598F|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S599F|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCATCATTTCCCCCCCAGAC	0.547000													78	110					0	0	0.003610	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845830	106845830	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:106845830C>T	ENST00000276185.4	+	16	4660	c.4660C>T	c.(4660-4662)Ccc>Tcc	p.P1554S				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1554						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTACTCTATCCCCATGAAGAT	0.577000													26	23					0	0	0.006320	0	0
IGSF1	3547	broad.mit.edu	37	X	130411868	130411868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:130411868C>T	ENST00000370904.1	-	19	3165	c.2255G>A	c.(2254-2256)tGg>tAg	p.W752*	IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W752*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.W761*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W766*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	761	Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGGCTCAGACCACTTGAAGGG	0.532000													18	11					0	0	0.007413	0	0
NCAM1	4684	broad.mit.edu	37	11	113078638	113078638	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:113078638T>G	ENST00000316851.7	+	6	800	c.800T>G	c.(799-801)gTg>gGg	p.V267G	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.V276G|NCAM1_ENST00000533760.1_Missense_Mutation_p.V159G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	277	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATCAAAAAGGTGGATAAGAAC	0.502000													8	3					0	0	0.003080	0	0
TUBB4A	10382	broad.mit.edu	37	19	6501346	6501346	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:6501346G>A	ENST00000264071.2	-	3	600	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C	TUBB4A_ENST00000596926.1_Missense_Mutation_p.R77C|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R77C|TUBB4A_ENST00000601152.1_Silent_p.S51S|TUBB4A_ENST00000598006.1_Silent_p.S62S			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	77					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GGGCCAGAACGGACAGAGTCC	0.587000													7	36					0	0	0.004482	0	0
LAMA5	3911	broad.mit.edu	37	20	60911421	60911421	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:60911421G>A	ENST00000252999.3	-	18	2364	c.2298C>T	c.(2296-2298)agC>agT	p.S766S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	766	Laminin EGF-like 9.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTTGCTGGGGCTCAGTCCCC	0.622000													7	91					0	0	0.001984	0	0
KIF6	221458	broad.mit.edu	37	6	39512353	39512353	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:39512353C>T	ENST00000287152.7	-	12	1498	c.1404G>A	c.(1402-1404)ctG>ctA	p.L468L	KIF6_ENST00000538893.1_Silent_p.L468L|KIF6_ENST00000373215.3_Silent_p.L468L|KIF6_ENST00000373216.3_Silent_p.L468L|KIF6_ENST00000373213.4_Silent_p.L307L	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	468					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTCTCTGTTTCAGAATATCTC	0.378000													18	24					0	0	0.007413	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662611	662611	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:662611G>T	ENST00000266383.5	+	14	1535	c.1522G>T	c.(1522-1524)Gtg>Ttg	p.V508L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	508						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCACATTCCAGTGCAGCAGCC	0.622000													18	27					6.94344e-10	9.24447e-10	0.006122	1	0
NPHS1	4868	broad.mit.edu	37	19	36322622	36322622	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:36322622C>T	ENST00000378910.5	-	24	3208	c.3209G>A	c.(3208-3210)gGg>gAg	p.G1070E	NPHS1_ENST00000353632.6_Intron	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1070					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGAAGCCCCCCAAGAGCGAA	0.647000													4	2					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179639101	179639101	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:179639101C>T	ENST00000589042.1	-	30	7114	c.6890G>A	c.(6889-6891)gGa>gAa	p.G2297E	TTN_ENST00000360870.5_Missense_Mutation_p.G2297E|TTN_ENST00000460472.2_Missense_Mutation_p.G2251E|TTN_ENST00000359218.5_Missense_Mutation_p.G2251E|TTN_ENST00000342992.6_Missense_Mutation_p.G2297E|TTN_ENST00000342175.6_Missense_Mutation_p.G2251E|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G2297E|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2015	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCATTTTCCTTCTATATT	0.393000													32	73					0	0	0.001786	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145726979	145726979	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:145726979G>T	ENST00000292539.4	+	11	2197	c.1280G>T	c.(1279-1281)cGa>cTa	p.R427L	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R427L			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	427						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TACTCCAAGCGACTAGACCGG	0.647000													9	4					9.70103e-10	1.28909e-09	0.008291	1	0
CARD17	440068	broad.mit.edu	37	11	104971360	104971360	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:104971360C>T	ENST00000375707.1	-	2	170	c.154G>A	c.(154-156)Gat>Aat	p.D52N	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1			caspase recruitment domain family, member 17											breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						CGGGCCTTATCCATAACTGTA	0.443000													38	41					0	0	0.005524	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220332762	220332762	+	Splice_Site	SNP	A	A	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:220332762A>T	ENST00000358951.2	-	29	3343	c.3225_splice	c.e29-1	p.V1076_splice		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1076					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TGATTTTCCAACCTAAAATAA	0.269000													7	38					0	0	0.001984	0	0
LPHN3	23284	broad.mit.edu	37	4	62863907	62863907	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:62863907C>T	ENST00000512091.1	+	20	3862	c.3115C>T	c.(3115-3117)Ctt>Ttt	p.L1039F	LPHN3_ENST00000508946.1_Missense_Mutation_p.L1039F|LPHN3_ENST00000506720.1_Missense_Mutation_p.L1107F|LPHN3_ENST00000508693.1_Missense_Mutation_p.L1107F|LPHN3_ENST00000514996.1_Missense_Mutation_p.L1039F|LPHN3_ENST00000507625.1_Missense_Mutation_p.L1107F|LPHN3_ENST00000514591.1_Missense_Mutation_p.L1039F|LPHN3_ENST00000504896.1_Missense_Mutation_p.L1039F|LPHN3_ENST00000506700.1_Missense_Mutation_p.L1039F|LPHN3_ENST00000514157.1_Missense_Mutation_p.L1039F|LPHN3_ENST00000545650.1_Missense_Mutation_p.L1039F|LPHN3_ENST00000506746.1_Missense_Mutation_p.L1107F|LPHN3_ENST00000511324.1_Missense_Mutation_p.L1107F|LPHN3_ENST00000507164.1_Missense_Mutation_p.L1107F|LPHN3_ENST00000509896.1_Missense_Mutation_p.L1107F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1026					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTAATCTTCCTTGGGATTGC	0.308000													9	36					0	0	0.006214	0	0
RYR2	6262	broad.mit.edu	37	1	237791188	237791188	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:237791188C>G	ENST00000366574.2	+	41	6565	c.6248C>G	c.(6247-6249)gCc>gGc	p.A2083G	RYR2_ENST00000360064.6_Missense_Mutation_p.A2081G|RYR2_ENST00000542537.1_Missense_Mutation_p.A2067G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2083	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGTGAGGGCCATGTTTGTG	0.547000													11	21					0	0	0.001368	0	0
SORBS1	10580	broad.mit.edu	37	10	97096734	97096734	+	Silent	SNP	G	G	C	rs117778203	byFrequency	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:97096734G>C	ENST00000371247.2	-	30	3372	c.3183C>G	c.(3181-3183)acC>acG	p.T1061T	SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000361941.3_Silent_p.T1061T|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371227.4_Silent_p.T1015T|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371239.1_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1061					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTAGGGAGTAGGTTTTGTGTG	0.567000													17	54					0	0	0.008871	0	0
CD2AP	23607	broad.mit.edu	37	6	47576933	47576933	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:47576933C>T	ENST00000359314.5	+	16	2163	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	CD2AP_ENST00000486693.1_3'UTR	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	569					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CATTAGAAATCAAAGCTAAAG	0.363000													25	28					0	0	0.002780	0	0
SSTR3	6753	broad.mit.edu	37	22	37603254	37603254	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:37603254C>T	ENST00000328544.3	-	2	1122	c.589G>A	c.(589-591)Gag>Aag	p.E197K	SSTR3_ENST00000402501.1_Missense_Mutation_p.E197K	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	197					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCCGCCGGCTCGGGCCACTGC	0.692000													8	15					0	0	0.004482	0	0
SLC2A9	56606	broad.mit.edu	37	4	9892272	9892272	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:9892272G>A	ENST00000506583.1	-	11	1307	c.1090C>T	c.(1090-1092)Ctc>Ttc	p.L364F	SLC2A9_ENST00000264784.3_Missense_Mutation_p.L393F|SLC2A9_ENST00000309065.3_Missense_Mutation_p.L364F			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	393					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCAAAGAAGAGGCCCATGAGC	0.522000													6	28					0	0	0.001984	0	0
RECK	8434	broad.mit.edu	37	9	36105242	36105242	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:36105242C>T	ENST00000377966.3	+	13	2104	c.1538C>T	c.(1537-1539)cCa>cTa	p.P513L		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	513						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AAAGGATGTCCATCTGGAGAT	0.448000													37	55					0	0	0.008740	0	0
CKM	1158	broad.mit.edu	37	19	45810756	45810756	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:45810756C>T	ENST00000221476.3	-	7	1104	c.930G>A	c.(928-930)gaG>gaA	p.E310E		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	310	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGGTGAGGATCTCCTCGAACT	0.642000													10	32					0	0	0.006214	0	0
IGLV2-18	28814	broad.mit.edu	37	22	23077428	23077428	+	RNA	SNP	A	A	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:23077428A>C	ENST00000390310.2	+	0	218																											CAAACTCATGATTTATGAGGT	0.577000													88	188					0	0	0.003610	0	0
ZNF106	64397	broad.mit.edu	37	15	42743290	42743290	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:42743290T>A	ENST00000263805.4	-	2	1437	c.1111A>T	c.(1111-1113)Aag>Tag	p.K371*	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		ATTTCTGACTTGTTACCAGTG	0.453000													22	71					0	0	0.002299	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22486958	22486958	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:22486958C>T	ENST00000396037.4	-	1	690	c.209G>A	c.(208-210)aGg>aAg	p.R70K	ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.R70K|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.R70K|ST8SIA1_ENST00000536558.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	70					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GGTCTGGTTCCTCCTCCACGC	0.652000													20	45					0	0	0.002780	0	0
ARL8A	127829	broad.mit.edu	37	1	202104325	202104325	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:202104325C>T	ENST00000272217.2	-	6	632	c.464G>A	c.(463-465)cGa>cAa	p.R155Q		NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	155					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GCAGATCTCTCGGTCCTGGAT	0.567000											OREG0012976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	69					0	0	0.001984	0	0
SPEM1	374768	broad.mit.edu	37	17	7324662	7324662	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:7324662G>A	ENST00000323675.3	+	3	693	c.668G>A	c.(667-669)gGg>gAg	p.G223E	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	223					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				AAGAACGGTGGGGAGGGGGCG	0.642000													18	22					0	0	0.008871	0	0
C1QC	714	broad.mit.edu	37	1	22973793	22973793	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:22973793G>A	ENST00000374639.3	+	3	373	c.255G>A	c.(253-255)ggG>ggA	p.G85G	C1QC_ENST00000374637.1_Silent_p.G85G|C1QC_ENST00000374640.4_Silent_p.G85G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	85	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	GCCATCCTGGGAAAAATGGCC	0.622000													25	27					0	0	0.004656	0	0
PSME4	23198	broad.mit.edu	37	2	54115873	54115873	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:54115873G>A	ENST00000404125.1	-	38	4428	c.4373C>T	c.(4372-4374)tCc>tTc	p.S1458F	PSME4_ENST00000421748.2_Missense_Mutation_p.S602F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1458					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATCTACAAAGGATCCTCCTTC	0.353000													35	90					0	0	0.005524	0	0
PACS1	55690	broad.mit.edu	37	11	66009114	66009114	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:66009114G>C	ENST00000320580.4	+	22	2679	c.2646G>C	c.(2644-2646)aaG>aaC	p.K882N	PACS1_ENST00000529757.1_Missense_Mutation_p.K418N|PACS1_ENST00000524815.1_Missense_Mutation_p.K10N	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	882				K -> L (in Ref. 1; AAQ67682).	interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCAAAGAAAAGAACAAGAAAG	0.572000													4	80					0	0	0.000248	0	0
SIPA1	6494	broad.mit.edu	37	11	65413395	65413395	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:65413395G>A	ENST00000394224.3	+	6	1526	c.1230G>A	c.(1228-1230)acG>acA	p.T410T	SIPA1_ENST00000534313.1_Silent_p.T410T|SIPA1_ENST00000527525.1_Silent_p.T410T|SIPA1_ENST00000394227.3_Silent_p.T410T	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	410	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACGTGTCCACGATGCTGCCTT	0.602000													8	1					0	0	0.000978	0	0
HNF4G	3174	broad.mit.edu	37	8	76465345	76465345	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:76465345C>T	ENST00000396423.2	+	5	652	c.528C>T	c.(526-528)gtC>gtT	p.V176V	HNF4G_ENST00000354370.1_Silent_p.V139V	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	139					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTGGTGATGTCTGTGAATCTA	0.363000													40	30					0	0	0.005524	0	0
EPHA3	2042	broad.mit.edu	37	3	89456425	89456425	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:89456425C>T	ENST00000336596.2	+	8	1826	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	EPHA3_ENST00000494014.1_Missense_Mutation_p.S534F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	534						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACAGCTTTCTCCATCTCTGGT	0.368000										TSP Lung(6;0.00050)			18	28					0	0	0.008871	0	0
PTCHD2	57540	broad.mit.edu	37	1	11580888	11580888	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:11580888C>T	ENST00000294484.6	+	10	2483	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S782F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	782					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAGGGCATCTCCTGCATCACC	0.637000													11	10					0	0	0.008291	0	0
SNHG14	104472715	broad.mit.edu	37	15	25477447	25477447	+	RNA	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:25477447C>T	ENST00000453082.2	+	0	1669					NR_003343.1																						TCAAGCCTTTCCTGGCACCCT	0.602000													9	39					0	0	0.004482	0	0
NOV	4856	broad.mit.edu	37	8	120429133	120429133	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:120429133G>A	ENST00000259526.3	+	2	461	c.234G>A	c.(232-234)ctG>ctA	p.L78L		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	78	IGFBP N-terminal.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTCAGATCTGGAGCCATGCG	0.672000											OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	23					0	0	0.006320	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204364	125204364	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:125204364C>T	ENST00000431078.1	+	6	1132	c.768C>T	c.(766-768)ccC>ccT	p.P256P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	256	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAGCTTGCCCTCTGCCACCC	0.597000													45	76					0	0	0.003610	0	0
DDX60L	91351	broad.mit.edu	37	4	169343713	169343713	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:169343713C>T	ENST00000511577.1	-	16	2453	c.2206G>A	c.(2206-2208)Gat>Aat	p.D736N	DDX60L_ENST00000505890.1_Missense_Mutation_p.D736N|DDX60L_ENST00000260184.7_Missense_Mutation_p.D736N			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	736							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACCCTGGGATCCCGATCTTTT	0.388000													4	14					0	0	0.000602	0	0
KSR2	283455	broad.mit.edu	37	12	118199237	118199237	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:118199237G>A	ENST00000425217.1	-	4	532	c.478C>T	c.(478-480)Ccg>Tcg	p.P160S	KSR2_ENST00000339824.5_Missense_Mutation_p.P189S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	189					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGATCCACGGGGTGGGCTCC	0.637000													30	51					0	0	0.002445	0	0
PLA2R1	22925	broad.mit.edu	37	2	160898621	160898621	+	Silent	SNP	A	A	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:160898621A>C	ENST00000283243.7	-	3	788	c.582T>G	c.(580-582)cgT>cgG	p.R194R	PLA2R1_ENST00000392771.1_Silent_p.R194R	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	194	Fibronectin type-II.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCCGACCTTCACGGGTACATT	0.448000													25	72					0	0	0.003330	0	0
GJB4	127534	broad.mit.edu	37	1	35227190	35227190	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:35227190A>T	ENST00000339480.1	+	2	705	c.335A>T	c.(334-336)aAt>aTt	p.N112I	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	112					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CACGGGCCCAATGCCCCGTCC	0.627000													19	56					0	0	0.007413	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17934436	17934436	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:17934436C>T	ENST00000361221.3	+	7	732	c.573C>T	c.(571-573)gtC>gtT	p.V191V	ARHGEF10L_ENST00000452522.1_Silent_p.V191V|ARHGEF10L_ENST00000375420.3_5'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.V191V|ARHGEF10L_ENST00000434513.1_Silent_p.V191V	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	191					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGGTCGAGGTCGAGCCCGCCA	0.692000													5	6					0	0	0.000602	0	0
STIL	6491	broad.mit.edu	37	1	47746374	47746374	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:47746374C>T	ENST00000360380.3	-	13	2119	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	STIL_ENST00000396221.2_Missense_Mutation_p.E586K|STIL_ENST00000243182.6_Missense_Mutation_p.E586K|STIL_ENST00000337817.5_Missense_Mutation_p.E586K|STIL_ENST00000371877.3_Missense_Mutation_p.E586K			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	586	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATCTGAAGTTCCATTGGTCTT	0.438000													41	71					0	0	0.008740	0	0
CDK4	1019	broad.mit.edu	37	12	58145436	58145436	+	Translation_Start_Site	SNP	T	T	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:58145436T>A	ENST00000540325.1	-	0	235				CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000257904.6_Missense_Mutation_p.K22M|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000312990.6_Missense_Mutation_p.K22M			P11802	CDK4_HUMAN	cyclin-dependent kinase 4						cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.K22R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATCACGGGCCTTGTACACTGT	0.557000			Mis			melanoma			Hereditary Melanoma				10	50					0	0	0.008291	0	0
SSH1	54434	broad.mit.edu	37	12	109182215	109182215	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:109182215G>A	ENST00000326495.5	-	15	2792	c.2699C>T	c.(2698-2700)cCt>cTt	p.P900L	SSH1_ENST00000360239.3_Missense_Mutation_p.P588L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	900	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTAGAAGAAAGGAGGGGGGCT	0.587000													12	54					0	0	0.001368	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69342025	69342025	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:69342025C>T	ENST00000305363.4	+	7	640	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	192	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GTCTCAGGATCGTTGGTGGGA	0.512000													35	121					0	0	0.004878	0	0
TBCE	6905	broad.mit.edu	37	1	235599136	235599136	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:235599136C>T	ENST00000543662.1	+	10	1073	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.L272L|TBCE_ENST00000366601.3_Silent_p.L272L			Q15813	TBCE_HUMAN	tubulin folding cofactor E	272					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TCAGCTGTATCTGATAGCCCA	0.363000													38	64					0	0	0.006999	0	0
EMC10	284361	broad.mit.edu	37	19	50983964	50983964	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:50983964G>A	ENST00000376918.3	+	5	575	c.529G>A	c.(529-531)Gac>Aac	p.D177N	EMC10_ENST00000334976.6_Missense_Mutation_p.D177N|CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000598585.1_Missense_Mutation_p.D177N	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10																		GGAGGACGTGGACCTGGAGCT	0.711000													4	12					0	0	0.000248	0	0
BIN1	274	broad.mit.edu	37	2	127808019	127808019	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:127808019G>A	ENST00000316724.5	-	18	2063	c.1652C>T	c.(1651-1653)cCc>cTc	p.P551L	BIN1_ENST00000393040.3_Missense_Mutation_p.P440L|BIN1_ENST00000409400.1_Missense_Mutation_p.P397L|BIN1_ENST00000348750.4_Missense_Mutation_p.P367L|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000351659.3_Missense_Mutation_p.P464L|BIN1_ENST00000352848.3_Missense_Mutation_p.P412L|BIN1_ENST00000376113.2_Missense_Mutation_p.P382L|BIN1_ENST00000346226.3_Missense_Mutation_p.P476L|BIN1_ENST00000357970.3_Missense_Mutation_p.P508L|BIN1_ENST00000259238.4_Missense_Mutation_p.P455L|BIN1_ENST00000393041.3_Missense_Mutation_p.P433L	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	551	SH3.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTTCTGGAAGGGGATCACCAG	0.662000											OREG0014962	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	51					0	0	0.003610	0	0
CFHR4	10877	broad.mit.edu	37	1	196876452	196876452	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:196876452C>T	ENST00000367416.2	+	5	757	c.620C>T	c.(619-621)tCa>tTa	p.S207L	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TCAGATTCTTCAGAAAACTGT	0.373000													7	24					0	0	0.003080	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785647	1785647	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:1785647C>T	ENST00000539485.1	-	26	3477	c.3244G>A	c.(3244-3246)Gag>Aag	p.E1082K	ATP8B3_ENST00000525591.1_Missense_Mutation_p.E1035K|ATP8B3_ENST00000310127.6_Missense_Mutation_p.E1072K			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1072					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAAGAGCTCGTCCTTCTGC	0.607000													11	24					0	0	0.001855	0	0
CCDC39	339829	broad.mit.edu	37	3	180377473	180377473	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:180377473T>C	ENST00000273654.4	-	11	1472	c.853A>G	c.(853-855)Agc>Ggc	p.S285G	CCDC39_ENST00000442201.2_Missense_Mutation_p.S201G			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	201					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACCTGTGCGCTTATAGTCTCT	0.323000													29	43					0	0	0.001786	0	0
C16orf59	80178	broad.mit.edu	37	16	2512222	2512222	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:2512222C>T	ENST00000569496.1	+	6	791	c.732C>T	c.(730-732)ctC>ctT	p.L244L	C16orf59_ENST00000483320.1_Silent_p.L77L|C16orf59_ENST00000563531.1_Silent_p.L244L|C16orf59_ENST00000361837.4_Silent_p.L244L			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	244										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CCCAGTTCCTCCAGAACATGC	0.627000													14	45					0	0	0.003163	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593915	31593915	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:31593915C>T	ENST00000376033.2	+	9	1192	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.Q320*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	320	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCAGTTGGATCAGGAGAATGA	0.453000													17	21					0	0	0.006122	0	0
POT1	25913	broad.mit.edu	37	7	124469334	124469334	+	Missense_Mutation	SNP	G	G	A	rs139388603		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:124469334G>A	ENST00000357628.3	-	16	2166	c.1568C>T	c.(1567-1569)tCg>tTg	p.S523L	POT1_ENST00000393329.1_Missense_Mutation_p.S392L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	523					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AGGAATCCACGATGTTTTATC	0.308000													40	95					0	0	0.003610	0	0
OR6F1	343169	broad.mit.edu	37	1	247875240	247875240	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:247875240G>A	ENST00000302084.2	-	1	865	c.818C>T	c.(817-819)gCt>gTt	p.A273V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GACGTGGACAGCTTTGATCAG	0.478000													39	57					0	0	0.004878	0	0
MYSM1	114803	broad.mit.edu	37	1	59142729	59142729	+	Splice_Site	SNP	C	C	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:59142729C>A	ENST00000472487.1	-	9	1299		c.e9-1		MYSM1_ENST00000493821.1_Splice_Site	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1						histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					GCATATCTCCCTAATTAAGAG	0.318000													5	169					3.59834e-05	4.69081e-05	0.001168	1	0
LGR6	59352	broad.mit.edu	37	1	202276493	202276493	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:202276493C>T	ENST00000367278.3	+	14	1333	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	LGR6_ENST00000255432.7_Missense_Mutation_p.P363L|LGR6_ENST00000439764.2_Missense_Mutation_p.P276L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	415						integral to membrane|plasma membrane	protein-hormone receptor activity	p.P415H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCCATCCACCCCGAGGCCTTC	0.597000													9	83					0	0	0.000978	0	0
PEG3	5178	broad.mit.edu	37	19	57327090	57327090	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:57327090C>G	ENST00000326441.9	-	10	3083	c.2720G>C	c.(2719-2721)aGt>aCt	p.S907T	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S781T|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S783T|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S907T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	907					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCAGGAACACTTTTCTGAGG	0.463000													49	77					0	0	0.003610	0	0
EOGT	285203	broad.mit.edu	37	3	69047162	69047162	+	Splice_Site	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:69047162G>T	ENST00000383701.3	-	10	1573	c.831_splice	c.e10+1	p.T277_splice	EOGT_ENST00000540955.1_Intron|EOGT_ENST00000295571.5_Splice_Site_p.T277_splice|EOGT_ENST00000540764.1_Splice_Site_p.T176_splice	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		TCTTACTTACGGTGTCCCACA	0.378000													5	95					3.59834e-05	4.69081e-05	0.001168	1	0
EPPK1	83481	broad.mit.edu	37	8	144945716	144945716	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:144945716G>A	ENST00000525985.1	-	2	1777	c.1706C>T	c.(1705-1707)cCa>cTa	p.P569L				P58107	EPIPL_HUMAN	epiplakin 1	569						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTCTCCTGGTGTCACGGT	0.642000													4	21					0	0	0.000248	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255408	140255408	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:140255408C>T	ENST00000398631.2	+	1	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTTTTCCATGTGGACG	0.562000													32	122					0	0	0.003271	0	0
PDGFRB	5159	broad.mit.edu	37	5	149511644	149511644	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:149511644G>A	ENST00000261799.4	-	8	1610	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	381	Ig-like C2-type 4.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGTGTCAGCTCTGACACA	0.567000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								17	42					0	0	0.004990	0	0
TENM1	10178	broad.mit.edu	37	X	123805540	123805540	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:123805540C>T	ENST00000422452.2	-	6	1224	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E	TENM1_ENST00000371130.3_Silent_p.E387E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TACCTTTTTTCTCTGATTTAT	0.378000													23	16					0	0	0.002299	0	0
GRHL1	29841	broad.mit.edu	37	2	10101265	10101265	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:10101265C>T	ENST00000324907.9	+	4	505	c.369C>T	c.(367-369)gtC>gtT	p.V123V	GRHL1_ENST00000324883.5_5'UTR|GRHL1_ENST00000405379.2_Silent_p.V123V	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	123					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TTAACATTGTCCTTCCCCATG	0.473000													5	24					0	0	0.000602	0	0
QSOX2	169714	broad.mit.edu	37	9	139100772	139100772	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:139100772G>A	ENST00000358701.5	-	12	1936	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	633					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CCAGACTCTGGAGTTTCCCGT	0.657000													29	29					0	0	0.008361	0	0
APOB	338	broad.mit.edu	37	2	21232161	21232161	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:21232161C>T	ENST00000233242.1	-	26	7706	c.7579G>A	c.(7579-7581)Gac>Aac	p.D2527N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2527					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCTGAATGTCCATTTGATAC	0.448000													159	648					0	0	0.003610	0	0
SF3A2	8175	broad.mit.edu	37	19	2246990	2246990	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:2246990C>T	ENST00000221494.4	+	7	933	c.515C>T	c.(514-516)gCc>gTc	p.A172V		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	172					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		CTGCTCATGGCCGCCGAGCCC	0.637000													14	63					0	0	0.007413	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569509	76569509	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:76569509C>T	ENST00000307431.8	+	19	3205	c.2820C>T	c.(2818-2820)acC>acT	p.T940T	CNTNAP4_ENST00000478060.1_Silent_p.T868T|CNTNAP4_ENST00000377504.4_Silent_p.T892T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.T944T	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	941	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGGGATGACCCTGGATTTGG	0.507000													14	48					0	0	0.004990	0	0
SLC4A9	83697	broad.mit.edu	37	5	139742515	139742515	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:139742515C>T	ENST00000230993.6	+	7	933	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	SLC4A9_ENST00000432095.2_Missense_Mutation_p.R276C|SLC4A9_ENST00000507527.1_Missense_Mutation_p.R300C|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R276C|SLC4A9_ENST00000506545.1_Missense_Mutation_p.R276C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	300						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.R300C(2)|p.R274C(1)|p.R274S(1)|p.R300S(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTCAGTTCGTCGGGCCAG	0.542000											OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	94					0	0	0.003755	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98171534	98171534	+	RNA	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:98171534T>C	ENST00000443455.1	-	0	1270							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TGTCCCACATTGTAGTCCATC	0.363000													19	28					0	0	0.002299	0	0
ZNF596	169270	broad.mit.edu	37	8	195641	195641	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:195641A>G	ENST00000398612.1	+	6	1177	c.794A>G	c.(793-795)aAc>aGc	p.N265S	ZNF596_ENST00000308811.4_Missense_Mutation_p.N265S|ZNF596_ENST00000320552.2_Missense_Mutation_p.N195S	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AAAAGTTCTAACCTTAGACGA	0.408000													8	19					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9064474	9064474	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:9064474G>A	ENST00000397910.4	-	3	23175	c.22972C>T	c.(22972-22974)Cca>Tca	p.P7658S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7660	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGGGTGTGGAAATCCCTGA	0.517000													11	34					0	0	0.000978	0	0
CUX2	23316	broad.mit.edu	37	12	111749989	111749989	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:111749989C>T	ENST00000261726.6	+	16	2140	c.1986C>T	c.(1984-1986)atC>atT	p.I662I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	662						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGAAGGAGATCGAGTCGCAGA	0.612000													4	10					0	0	0.000248	0	0
GATAD1	57798	broad.mit.edu	37	7	92080050	92080050	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:92080050C>T	ENST00000287957.3	+	3	688	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	137							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCACTATAATCACTGCAGAAT	0.388000													15	39					0	0	0.007413	0	0
ABCA4	24	broad.mit.edu	37	1	94485300	94485300	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:94485300C>T	ENST00000370225.3	-	36	5120	c.5034G>A	c.(5032-5034)gtG>gtA	p.V1678V		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1678					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCACAGCATCCACTGAAGTGG	0.532000													9	8					0	0	0.004482	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787024	121787024	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:121787024C>T	ENST00000261367.7	+	12	4051	c.2623C>T	c.(2623-2625)Cct>Tct	p.P875S	CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P386S|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P462S|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P828S|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P768S|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P430S|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P875S			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	828					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GATGGAGCAGCCTAGCCTTGA	0.493000													18	47					0	0	0.007413	0	0
NLRP4	147945	broad.mit.edu	37	19	56370377	56370377	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:56370377G>A	ENST00000301295.6	+	3	2040	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	NLRP4_ENST00000587891.1_Missense_Mutation_p.E465K|NLRP4_ENST00000346986.5_Missense_Mutation_p.E540K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	540							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAGCTTAGGGGAGCGTGGCAA	0.453000													11	58					0	0	0.001368	0	0
ROS1	6098	broad.mit.edu	37	6	117678018	117678018	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:117678018G>A	ENST00000368508.3	-	25	4113	c.3915C>T	c.(3913-3915)atC>atT	p.I1305I	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.I1300I	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1305					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.I1305I(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGTGTGACTGATAATACTGT	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								18	23					0	0	0.002299	0	0
HIPK1	204851	broad.mit.edu	37	1	114512713	114512713	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:114512713G>A	ENST00000369558.1	+	14	3139	c.2907G>A	c.(2905-2907)ttG>ttA	p.L969L	HIPK1_ENST00000369561.4_Silent_p.L935L|HIPK1_ENST00000369555.2_Silent_p.L924L|HIPK1_ENST00000369559.4_Silent_p.L969L|HIPK1_ENST00000426820.2_Silent_p.L969L|HIPK1_ENST00000406344.1_Silent_p.L575L|HIPK1_ENST00000369553.1_Silent_p.L575L|HIPK1_ENST00000369554.2_Silent_p.L924L|HIPK1_ENST00000340480.4_Silent_p.L595L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	969	Interaction with TP53.|Required for localization to nuclear speckles (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCCGTTTTGGAGGGGCCTG	0.527000													35	115					0	0	0.003755	0	0
FAM47C	442444	broad.mit.edu	37	X	37028775	37028775	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:37028775G>A	ENST00000358047.3	+	1	2344	c.2292G>A	c.(2290-2292)ccG>ccA	p.P764P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	764										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCCGCCCGGAGCCTCCTG	0.622000													21	15					0	0	0.001523	0	0
URB2	9816	broad.mit.edu	37	1	229770694	229770694	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:229770694C>T	ENST00000258243.2	+	4	470	c.334C>T	c.(334-336)Ctt>Ttt	p.L112F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	112						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGAGTTCTCTCTTTCGGGATC	0.433000													14	43					0	0	0.006122	0	0
NOTCH3	4854	broad.mit.edu	37	19	15299856	15299856	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:15299856C>T	ENST00000263388.2	-	8	1397	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	441	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGCCTGGTTTCGGCAGGGCCC	0.657000													5	19					0	0	0.000602	0	0
KRT2	3849	broad.mit.edu	37	12	53042059	53042059	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:53042059G>A	ENST00000309680.3	-	5	1041	c.1020C>T	c.(1018-1020)agC>agT	p.S340S		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	340	Linker 12.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CCAGGTTGCGGCTGTTGTCCA	0.547000													33	117					0	0	0.002836	0	0
FRMPD2	143162	broad.mit.edu	37	10	49393605	49393605	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:49393605G>A	ENST00000374201.3	-	18	2652	c.2350C>T	c.(2350-2352)Cgt>Tgt	p.R784C	FRMPD2_ENST00000407470.4_Missense_Mutation_p.R752C|FRMPD2_ENST00000305531.3_Missense_Mutation_p.R759C	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	784	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.R784C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCAAAACCACGATGTGGGTCA	0.502000													12	66					0	0	0.001368	0	0
PTPRC	5788	broad.mit.edu	37	1	198711073	198711073	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:198711073G>A	ENST00000367376.2	+	24	2644	c.2473G>A	c.(2473-2475)Gat>Aat	p.D825N	PTPRC_ENST00000594404.1_Missense_Mutation_p.D664N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D827N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D666N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D777N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	825	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGTGCCTGAGGATCCTCACTT	0.453000													13	23					0	0	0.003163	0	0
RIMS1	22999	broad.mit.edu	37	6	72596778	72596778	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:72596778C>T	ENST00000264839.7	+	1	52	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S	RIMS1_ENST00000521978.1_Missense_Mutation_p.P18S|RIMS1_ENST00000522291.1_Missense_Mutation_p.P18S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P18S|RIMS1_ENST00000518273.1_Missense_Mutation_p.P18S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P18S|RIMS1_ENST00000517960.1_Missense_Mutation_p.P18S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P18S			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	18					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGTGCCTCCCCCCATGCAAGA	0.632000													4	18					0	0	0.000248	0	0
EPO	2056	broad.mit.edu	37	7	100320703	100320703	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:100320703C>T	ENST00000252723.2	+	5	710	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	177					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	p.R177W(1)		central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CAATTTCCTCCGGGGAAAGCT	0.572000													56	105					0	0	0.003610	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													5	63					0	0	0.001984	0	0
ABCA10	10349	broad.mit.edu	37	17	67146127	67146127	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:67146127G>A	ENST00000269081.4	-	38	5384	c.4475C>T	c.(4474-4476)gCg>gTg	p.A1492V	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1492					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAACTTACTCGCCTCTAACTT	0.353000													5	35					0	0	0.000602	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123118096	123118096	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:123118096C>T	ENST00000368440.4	+	3	631	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.H21Y|SMPDL3A_ENST00000487215.1_3'UTR	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	152					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		GCTGGGTAATCATGACTATTG	0.368000													22	28					0	0	0.004656	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694361	153694361	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:153694361G>A	ENST00000369682.3	+	14	2791	c.2616G>A	c.(2614-2616)gtG>gtA	p.V872V		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	872	IPT/TIG 1.				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)					CCCGAGAGGTGGGCCTGCGGG	0.662000													13	8					0	0	0.001855	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140802161	140802161	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:140802161C>T	ENST00000398587.2	+	1	1400	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.S456F|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCCTCACTCCTCTTACTCT	0.547000													28	99					0	0	0.008361	0	0
TENM3	55714	broad.mit.edu	37	4	183676186	183676186	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:183676186G>T	ENST00000511685.1	+	22	4789	c.4666G>T	c.(4666-4668)Gtg>Ttg	p.V1556L	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.V1556L					teneurin transmembrane protein 3																		TATTACTGCTGTGACAGACAG	0.408000													9	32					7.48243e-07	9.84756e-07	0.006214	1	0
PLEKHH1	57475	broad.mit.edu	37	14	68029190	68029190	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:68029190C>T	ENST00000329153.5	+	7	974	c.842C>T	c.(841-843)tCc>tTc	p.S281F		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	281						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGTTCAGCTTCCTGGGGTGAG	0.562000													6	18					0	0	0.001168	0	0
SMG9	56006	broad.mit.edu	37	19	44242349	44242349	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:44242349G>A	ENST00000601170.1	-	8	1148	c.834C>T	c.(832-834)atC>atT	p.I278I	SMG9_ENST00000270066.6_Silent_p.I278I			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	278					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						GATGGTCTAGGATAGAAGGGC	0.507000													29	67					0	0	0.007291	0	0
DST	667	broad.mit.edu	37	6	56327921	56327921	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:56327921G>A	ENST00000244364.6	-	82	15259	c.15052C>T	c.(15052-15054)Cca>Tca	p.P5018S	DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Intron	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	7442					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCAACCATGGTTTACCATAA	0.418000													25	34					0	0	0.006320	0	0
NXF1	10482	broad.mit.edu	37	11	62562464	62562464	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:62562464C>T	ENST00000532297.1	-	19	2149	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q	NXF1_ENST00000294172.2_Missense_Mutation_p.R507Q|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	507	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAAGAATCCCGGGACTTTCC	0.433000													32	27					0	0	0.004289	0	0
GAN	8139	broad.mit.edu	37	16	81411074	81411074	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:81411074A>C	ENST00000248272.3	+	11	1829	c.1667A>C	c.(1666-1668)cAc>cCc	p.H556P		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	556					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				ACCTGGCACCACACTAAACCA	0.488000													36	113					0	0	0.004878	0	0
GNAS	2778	broad.mit.edu	37	20	57430019	57430019	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:57430019G>A	ENST00000371100.4	+	1	2251	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.E567K|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.E567K|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.M503I|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTACTACGATGAAGGGGTGGC	0.687000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			12	18					0	0	0.002450	0	0
MMP13	4322	broad.mit.edu	37	11	102826002	102826002	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:102826002G>T	ENST00000260302.3	-	2	369	c.341C>A	c.(340-342)tCc>tAc	p.S114Y	MMP13_ENST00000340273.4_Missense_Mutation_p.S114Y	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	114					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)		ATTCATTTTGGACCATTTAAG	0.358000													19	50					2.94398e-08	3.89695e-08	0.007413	1	0
SEC14L3	266629	broad.mit.edu	37	22	30866026	30866026	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:30866026G>A	ENST00000403066.1	-	5	320	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F	SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000539629.1_Missense_Mutation_p.L13F|SEC14L3_ENST00000415957.2_Missense_Mutation_p.L13F|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000401751.1_Missense_Mutation_p.L13F|SEC14L3_ENST00000215812.4_Missense_Mutation_p.L72F			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	72						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TGCCAATCAAGGATATGGTCA	0.547000													66	166					0	0	0.003610	0	0
MAST4	375449	broad.mit.edu	37	5	66461599	66461599	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:66461599C>T	ENST00000404260.3	+	29	6909	c.6601C>T	c.(6601-6603)Cct>Tct	p.P2201S	MAST4_ENST00000405643.1_Missense_Mutation_p.P2019S|MAST4_ENST00000403625.2_Missense_Mutation_p.P2198S|MAST4_ENST00000261569.7_Missense_Mutation_p.P2004S|MAST4_ENST00000403666.1_Missense_Mutation_p.P2009S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2201	Pro-rich.		P -> L.			cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCGGCCTGGCCCTGACCCGGG	0.657000													4	5					0	0	0.000248	0	0
RGAG1	57529	broad.mit.edu	37	X	109694200	109694200	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:109694200C>T	ENST00000465301.2	+	3	601	c.355C>T	c.(355-357)Cca>Tca	p.P119S	RGAG1_ENST00000540313.1_Missense_Mutation_p.P119S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	119										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATTGCTAATGCCAGCCTTAGA	0.522000													44	40					0	0	0.002522	0	0
GTPBP4	23560	broad.mit.edu	37	10	1038588	1038588	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:1038588C>T	ENST00000360803.4	+	2	290	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	GTPBP4_ENST00000545048.1_Missense_Mutation_p.P23S|GTPBP4_ENST00000538293.1_5'UTR|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	70					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AACAGATTTCCCCAAATTGGA	0.353000													3	13					0	0	0.004672	0	0
KCNIP1	30820	broad.mit.edu	37	5	170148820	170148820	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:170148820C>T	ENST00000434108.1	+	4	315	c.315C>T	c.(313-315)ctC>ctT	p.L105L	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000411494.1_Intron|KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000520740.1_Intron			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	96	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACCTGCCCTCCTTTTCTGCC	0.532000													28	100					0	0	0.006320	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448446	142448446	+	RNA	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:142448446G>A	ENST00000422143.2	+	0	107																											ACTAGGCTCTGTGTTCAGTGC	0.502000													46	90					0	0	0.003610	0	0
TCF12	6938	broad.mit.edu	37	15	57535737	57535737	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:57535737C>T	ENST00000267811.5	+	13	1407	c.1103C>T	c.(1102-1104)tCa>tTa	p.S368L	TCF12_ENST00000452095.2_Missense_Mutation_p.S364L|TCF12_ENST00000557843.1_Missense_Mutation_p.S368L|TCF12_ENST00000537840.1_Missense_Mutation_p.S132L|TCF12_ENST00000543579.1_Missense_Mutation_p.S198L|TCF12_ENST00000333725.5_Missense_Mutation_p.S368L|TCF12_ENST00000438423.2_Missense_Mutation_p.S368L|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000343827.3_Missense_Mutation_p.S198L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	368					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GGATCACCTTCACCTCTCACA	0.348000			T	TEC	extraskeletal myxoid chondrosarcoma								19	53					0	0	0.001523	0	0
IGHG1	3500	broad.mit.edu	37	14	106208091	106208091	+	RNA	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:106208091G>T	ENST00000390548.2	-	0	711																											AGCTCATCCCGGGATGGGGGC	0.642000													4	114					0.00198382	0.00257634	0.001984	1	0
TPO	7173	broad.mit.edu	37	2	1480872	1480872	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:1480872C>T	ENST00000345913.4	+	8	925	c.834C>T	c.(832-834)gcC>gcT	p.A278A	TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Silent_p.A278A|TPO_ENST00000349624.3_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000346956.3_Silent_p.A278A|TPO_ENST00000337415.3_Silent_p.A278A|TPO_ENST00000329066.4_Silent_p.A278A	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	278					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGAGGAGGCCCGGCCGGCCG	0.701000													6	28					0	0	0.001984	0	0
DDX60	55601	broad.mit.edu	37	4	169229235	169229235	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:169229235G>A	ENST00000393743.3	-	4	477	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	62							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGAAGAAATGGAGGTTCTGCC	0.343000													17	78					0	0	0.007413	0	0
SEC16A	9919	broad.mit.edu	37	9	139370482	139370482	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:139370482C>T	ENST00000313050.7	-	1	1659	c.1586G>A	c.(1585-1587)aGc>aAc	p.S529N	SEC16A_ENST00000371706.3_Missense_Mutation_p.S351N|SEC16A_ENST00000290037.6_Missense_Mutation_p.S351N|SEC16A_ENST00000431893.2_Missense_Mutation_p.S351N	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	351					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCTTCCGTGGCTTCTGCTGCT	0.572000													21	21					0	0	0.004656	0	0
HRH1	3269	broad.mit.edu	37	3	11301853	11301853	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:11301853G>A	ENST00000397056.1	+	3	1321	c.1130G>A	c.(1129-1131)aGg>aAg	p.R377K	HRH1_ENST00000438284.2_Missense_Mutation_p.R377K|HRH1_ENST00000431010.2_Missense_Mutation_p.R377K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	377					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGCAAATTGAGGAGTGGGTCT	0.488000													26	22					0	0	0.003954	0	0
MAST4	375449	broad.mit.edu	37	5	66461600	66461600	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:66461600C>T	ENST00000404260.3	+	29	6910	c.6602C>T	c.(6601-6603)cCt>cTt	p.P2201L	MAST4_ENST00000405643.1_Missense_Mutation_p.P2019L|MAST4_ENST00000403625.2_Missense_Mutation_p.P2198L|MAST4_ENST00000261569.7_Missense_Mutation_p.P2004L|MAST4_ENST00000403666.1_Missense_Mutation_p.P2009L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2201	Pro-rich.		P -> L.			cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGGCCTGGCCCTGACCCGGGC	0.657000													4	5					0	0	0.000248	0	0
BANK1	55024	broad.mit.edu	37	4	102951268	102951268	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:102951268G>A	ENST00000504592.1	+	14	2119	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	BANK1_ENST00000444316.2_Silent_p.E552E|BANK1_ENST00000322953.4_Silent_p.E582E|BANK1_ENST00000428908.1_Silent_p.E449E|BANK1_ENST00000508653.1_Silent_p.E449E|RP11-498M5.2_ENST00000505091.1_RNA			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	582					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTTTTGCTGAGATTGATGACA	0.403000													16	27					0	0	0.004007	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202915610	202915610	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:202915610G>A	ENST00000340990.5	-	4	685	c.387C>T	c.(385-387)ttC>ttT	p.F129F	ADIPOR1_ENST00000436244.1_Silent_p.F129F|ADIPOR1_ENST00000367254.3_Silent_p.F129F	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	129					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TATGAATGCGGAAGATGCTCT	0.493000													19	84					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179640134	179640134	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:179640134C>T	ENST00000589042.1	-	28	6681	c.6457G>A	c.(6457-6459)Gcc>Acc	p.A2153T	TTN_ENST00000360870.5_Missense_Mutation_p.A2153T|TTN_ENST00000460472.2_Missense_Mutation_p.A2107T|TTN_ENST00000359218.5_Missense_Mutation_p.A2107T|TTN_ENST00000342992.6_Missense_Mutation_p.A2153T|TTN_ENST00000342175.6_Missense_Mutation_p.A2107T|TTN_ENST00000591111.1_Missense_Mutation_p.A2153T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1914	Ig-like 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTTGATGGCTTTTACCATG	0.448000													18	50					0	0	0.004990	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887001	9887001	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr18:9887001G>A	ENST00000306084.6	+	2	724	c.525G>A	c.(523-525)aaG>aaA	p.K175K	TXNDC2_ENST00000536353.2_Silent_p.K108K|TXNDC2_ENST00000357775.4_Silent_p.K108K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	175	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCAGCCCAAGGAGGGTGACA	0.562000													38	94					0	0	0.004878	0	0
IQCH	64799	broad.mit.edu	37	15	67629324	67629324	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:67629324G>A	ENST00000335894.4	+	5	465	c.399G>A	c.(397-399)tcG>tcA	p.S133S	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	133										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TAAAGGTTTCGAAGTTAATCA	0.343000													15	41					0	0	0.003163	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50403276	50403276	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:50403276G>A	ENST00000435965.1	-	34	3074	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F	CACNA2D2_ENST00000423994.2_Silent_p.F968F|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000360963.3_Silent_p.F891F|CACNA2D2_ENST00000479441.1_Silent_p.F967F|CACNA2D2_ENST00000395083.1_Silent_p.F960F|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000266039.3_Silent_p.F960F|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000424201.2_Silent_p.F960F|CACNA2D2_ENST00000429770.1_Silent_p.F961F			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	967					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CCAGGTTAAGGAAATCTGCAA	0.622000													8	35					0	0	0.008291	0	0
JMJD1C	221037	broad.mit.edu	37	10	64949134	64949134	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:64949134G>A	ENST00000399262.2	-	18	6582	c.6364C>T	c.(6364-6366)Cca>Tca	p.P2122S	JMJD1C_ENST00000542921.1_Missense_Mutation_p.P1940S|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P1885S|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2122					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTACTTGGTGGAATTTTGTTT	0.318000													10	54					0	0	0.008291	0	0
RGS7BP	401190	broad.mit.edu	37	5	63871726	63871726	+	Missense_Mutation	SNP	G	G	A	rs151111266		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:63871726G>A	ENST00000334025.2	+	3	784	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	153					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CAGTTTCATCGAAAAGGTATC	0.398000													10	33					0	0	0.001368	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13915816	13915816	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:13915816C>T	ENST00000254323.2	+	3	755	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	189							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTGCCCATCTCCGAGACGCTC	0.637000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	51					0	0	0.004990	0	0
MYEOV	26579	broad.mit.edu	37	11	69063157	69063157	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:69063157C>T	ENST00000535407.1	+	2	709	c.66C>T	c.(64-66)ctC>ctT	p.L22L	MYEOV_ENST00000441339.2_Silent_p.L80L|MYEOV_ENST00000308946.3_Silent_p.L80L			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	80										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GGGGCCGCCTCTGTCTCTCCC	0.622000													45	52					0	0	0.002852	0	0
ARMC6	93436	broad.mit.edu	37	19	19168362	19168362	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:19168362C>T	ENST00000535612.1	+	9	1863	c.1431C>T	c.(1429-1431)gcC>gcT	p.A477A	ARMC6_ENST00000392336.3_Silent_p.A477A|ARMC6_ENST00000546344.1_Silent_p.A384A|ARMC6_ENST00000269932.6_Silent_p.A452A|ARMC6_ENST00000392335.2_Silent_p.A452A	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	477							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TGGCCAAGGCCGCCCTGCGGG	0.677000													18	76					0	0	0.006122	0	0
MECOM	2122	broad.mit.edu	37	3	168807883	168807883	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:168807883C>T	ENST00000464456.1	-	13	3915	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	MECOM_ENST00000494292.1_Silent_p.K1093K|MECOM_ENST00000460814.1_Silent_p.K905K|MECOM_ENST00000433243.2_Silent_p.K915K|MECOM_ENST00000468789.1_Silent_p.K914K|MECOM_ENST00000472280.1_Silent_p.K915K|MECOM_ENST00000264674.3_Silent_p.K979K|MECOM_ENST00000392736.3_Silent_p.K914K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCACTGGTTCCTTTCCTGTTT	0.428000													49	83					0	0	0.003610	0	0
SYNE4	163183	broad.mit.edu	37	19	36499198	36499198	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:36499198C>T	ENST00000324444.3	-	2	311	c.200G>A	c.(199-201)gGc>gAc	p.G67D	SYNE4_ENST00000340477.5_Missense_Mutation_p.G67D	NM_001039876.1	NP_001034965.1			spectrin repeat containing, nuclear envelope family member 4																		AGGCTCATTGCCCCTTGGCCC	0.657000													19	67					0	0	0.001882	0	0
ERBB4	2066	broad.mit.edu	37	2	212295699	212295699	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:212295699C>T	ENST00000342788.4	-	21	2924	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	ERBB4_ENST00000402597.1_Missense_Mutation_p.E862K|ERBB4_ENST00000436443.1_Missense_Mutation_p.E872K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	872	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E872K(2)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TACTCTTTTTCATCTCCTTCC	0.378000										TSP Lung(8;0.080)			30	60					0	0	0.002445	0	0
TOP1	7150	broad.mit.edu	37	20	39750645	39750645	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:39750645G>A	ENST00000361337.2	+	20	2295		c.e20-1		RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I						DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	p.?(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TATTCTTCTAGGGTAGTAGAG	0.463000			T	NUP98	AML*								47	54					0	0	0.003610	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94913414	94913414	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:94913414C>T	ENST00000289495.5	+	15	3477	c.3261C>T	c.(3259-3261)ttC>ttT	p.F1087F	PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000424654.1_Silent_p.F1105F|PPP1R9A_ENST00000433360.1_Silent_p.F1127F|PPP1R9A_ENST00000456331.2_Silent_p.F1105F|PPP1R9A_ENST00000340694.4_Intron	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	874	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATGCCTTTCTCATGGTTTA	0.483000										HNSCC(28;0.073)			25	48					0	0	0.003954	0	0
ABCC8	6833	broad.mit.edu	37	11	17496474	17496474	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:17496474G>A	ENST00000302539.4	-	2	374	c.249C>T	c.(247-249)ttC>ttT	p.F83F	ABCC8_ENST00000389817.3_Silent_p.F83F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	83					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACACCAGGACGAAGAGCAGCA	0.547000													257	270					0	0	0.003610	0	0
PHKA1	5255	broad.mit.edu	37	X	71822120	71822120	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:71822120C>T	ENST00000373545.3	-	26	3182	c.2744G>A	c.(2743-2745)cGt>cAt	p.R915H	PHKA1_ENST00000339490.3_Missense_Mutation_p.R974H|PHKA1_ENST00000373542.4_Missense_Mutation_p.R974H|PHKA1_ENST00000541944.1_Missense_Mutation_p.R915H|PHKA1_ENST00000373539.3_Missense_Mutation_p.R974H			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	974					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ATCAGTGGGACGAACTATGTA	0.363000													4	3					0	0	0.000248	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701318	56701318	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:56701318C>T	ENST00000586855.2	-	5	1679	c.1366G>A	c.(1366-1368)Gtt>Att	p.V456I	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.V456I			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	456					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CGCTGGTGAACGTTCAGGTTC	0.537000													19	35					0	0	0.001523	0	0
GRM2	2912	broad.mit.edu	37	3	51746528	51746528	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:51746528A>G	ENST00000395052.3	+	3	724	c.490A>G	c.(490-492)Agc>Ggc	p.S164G	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.S164G	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	164					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCCACAGATTAGCTACGCCTC	0.537000													44	72					0	0	0.003214	0	0
MDGA2	161357	broad.mit.edu	37	14	47351265	47351265	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:47351265G>A	ENST00000426342.1	-	11	2250	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.2_Missense_Mutation_p.R731C|MDGA2_ENST00000357362.3_Missense_Mutation_p.R502C|MDGA2_ENST00000399232.2_Missense_Mutation_p.R800C	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	731	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.R502C(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTGATCACACGAATTGTTGAA	0.299000													4	8					0	0	0.000248	0	0
ZNF12	7559	broad.mit.edu	37	7	6731272	6731272	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:6731272T>C	ENST00000405858.1	-	5	1842	c.1301A>G	c.(1300-1302)gAg>gGg	p.E434G	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.E360G|ZNF12_ENST00000342651.5_Missense_Mutation_p.E396G	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	434					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		ATACGGTTTCTCTCCTGTGTG	0.428000													20	26					0	0	0.007413	0	0
EPHA6	285220	broad.mit.edu	37	3	97124098	97124098	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:97124098G>A	ENST00000389672.5	+	6	1749	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	476						integral to plasma membrane	ATP binding|ephrin receptor activity	p.E477K(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTGGACTACGAGATCAAGTA	0.388000													5	20					0	0	0.001168	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76528908	76528908	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:76528908G>A	ENST00000307431.8	+	15	2564	c.2179G>A	c.(2179-2181)Gga>Aga	p.G727R	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G655R|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G679R|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G731R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	728	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGATTAGAGGGAAACTGCAT	0.403000													24	83					0	0	0.003954	0	0
KCNIP1	30820	broad.mit.edu	37	5	170148821	170148821	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:170148821C>T	ENST00000434108.1	+	4	316	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000411494.1_Intron|KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000520740.1_Intron			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	96	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTGCCCTCCTTTTCTGCCT	0.537000													27	100					0	0	0.005443	0	0
OBSL1	23363	broad.mit.edu	37	2	220432111	220432111	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:220432111G>A	ENST00000404537.1	-	4	1777	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	OBSL1_ENST00000373873.4_Missense_Mutation_p.A574V|OBSL1_ENST00000603926.1_Missense_Mutation_p.A574V|OBSL1_ENST00000289656.3_Missense_Mutation_p.A161V|OBSL1_ENST00000373876.1_Missense_Mutation_p.A574V|OBSL1_ENST00000265318.4_Missense_Mutation_p.A574V	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	574	Fibronectin type-III.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CACCTCCACGGCTCCGGCTTT	0.637000													8	13					0	0	0.004482	0	0
RMDN2	151393	broad.mit.edu	37	2	38178943	38178943	+	Silent	SNP	T	T	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:38178943T>G	ENST00000407257.1	+	2	732	c.585T>G	c.(583-585)acT>acG	p.T195T	RMDN2_ENST00000402091.3_Silent_p.T195T|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000234195.3_Silent_p.T195T|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Intron					regulator of microtubule dynamics 2																		CAAACACTACTTCTCCAGCCT	0.338000													45	90					0	0	0.003610	0	0
KIAA2026	158358	broad.mit.edu	37	9	5924688	5924688	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:5924688C>T	ENST00000399933.3	-	7	2655	c.2656G>A	c.(2656-2658)Gat>Aat	p.D886N	KIAA2026_ENST00000381461.2_Missense_Mutation_p.D856N	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	886										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCCAGGATATCCAGAGGTTCT	0.383000													21	104					0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9086812	9086812	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:9086812C>T	ENST00000397910.4	-	1	5206	c.5003G>A	c.(5002-5004)aGa>aAa	p.R1668K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1668	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAACTTCTTCTTTCCAGTGC	0.512000													22	83					0	0	0.002780	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													7	168					0	0	0.001984	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460106	107460106	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:107460106C>T	ENST00000409382.3	-	2	938	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E110K|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.E110K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	110					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAAAAAAACTCTTTATGTTCA	0.567000													145	82					0	0	0.003610	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19775840	19775840	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr21:19775840C>T	ENST00000284885.3	-	1	133	c.100G>A	c.(100-102)Gga>Aga	p.G34R		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	34					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCAATTAATCCAGCACAGAGC	0.453000													18	55					0	0	0.007413	0	0
CT62	196993	broad.mit.edu	37	15	71403594	71403594	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:71403594C>G	ENST00000449977.2	-	4	813	c.307G>C	c.(307-309)Ggg>Cgg	p.G103R	CT62_ENST00000566432.1_3'UTR|THSD4_ENST00000355327.3_Intron|RP11-673C5.4_ENST00000564862.1_RNA	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	103										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						TGAAGACTCCCTGACACTTCA	0.488000													11	40					0	0	0.001368	0	0
SACS	26278	broad.mit.edu	37	13	23913792	23913792	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr13:23913792A>G	ENST00000382298.3	-	10	4811	c.4223T>C	c.(4222-4224)cTt>cCt	p.L1408P	SACS_ENST00000402364.1_Missense_Mutation_p.L658P|SACS_ENST00000382292.3_Missense_Mutation_p.L1408P	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1408					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAAGTCATTAAGGTCATCAAC	0.378000													17	45					0	0	0.004990	0	0
C9orf96	169436	broad.mit.edu	37	9	136251455	136251455	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:136251455T>C	ENST00000371957.3	+	4	381	c.274T>C	c.(274-276)Ttc>Ctc	p.F92L	C9orf96_ENST00000426926.2_Missense_Mutation_p.F92L|C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	92	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCAGGAGCTGTTCATCACGTG	0.617000													28	19					0	0	0.005443	0	0
PCLO	27445	broad.mit.edu	37	7	82595691	82595691	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:82595691G>A	ENST00000423517.2	-	4	3750	c.3413C>T	c.(3412-3414)cCt>cTt	p.P1138L	PCLO_ENST00000333891.8_Missense_Mutation_p.P1138L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1077					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						TGTAGGAACAGGCATAGGAGA	0.428000													32	69					0	0	0.002096	0	0
CFI	3426	broad.mit.edu	37	4	110682768	110682768	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:110682768C>T	ENST00000394634.2	-	4	770	c.563G>A	c.(562-564)gGa>gAa	p.G188E	CFI_ENST00000394635.3_Missense_Mutation_p.G188E|CFI_ENST00000512148.1_Missense_Mutation_p.G188E	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	188	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GGTCTCTAATCCTCGGCAATG	0.393000													21	47					0	0	0.008871	0	0
OR6C4	341418	broad.mit.edu	37	12	55945560	55945560	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:55945560G>A	ENST00000394256.2	+	1	578	c.550G>A	c.(550-552)Gag>Aag	p.E184K	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						GCCTCTCGTGGAGCTTGCCTG	0.473000													25	77					0	0	0.004656	0	0
AGAP1	116987	broad.mit.edu	37	2	236949435	236949435	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:236949435C>T	ENST00000409538.1	+	14	2973	c.2477C>T	c.(2476-2478)tCg>tTg	p.S826L	AGAP1_ENST00000336665.5_Missense_Mutation_p.S561L|AGAP1_ENST00000304032.7_Missense_Mutation_p.S614L|AGAP1_ENST00000428334.2_Missense_Mutation_p.S453L			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	614					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCCCTGCAGTCGATCCGGAAC	0.622000													14	46					0	0	0.004990	0	0
NLRP9	338321	broad.mit.edu	37	19	56244333	56244333	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:56244333C>T	ENST00000332836.2	-	2	891	c.864G>A	c.(862-864)cgG>cgA	p.R288R		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	288	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTTTGGATGCCGCAACATAA	0.383000													32	36					0	0	0.008361	0	0
MORC1	27136	broad.mit.edu	37	3	108688522	108688522	+	Silent	SNP	G	G	A	rs138551884		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:108688522G>A	ENST00000232603.5	-	26	2680	c.2598C>T	c.(2596-2598)ttC>ttT	p.F866F	MORC1_ENST00000483760.1_Silent_p.F845F	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	866					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTACCTGGTTGAAACACATTT	0.353000													25	41					0	0	0.008361	0	0
C1orf123	54987	broad.mit.edu	37	1	53684129	53684129	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:53684129G>A	ENST00000294360.4	-	4	227	c.186C>T	c.(184-186)tcC>tcT	p.S62S	C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	62										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						TCTGGACCATGGAAGCACTGC	0.527000													16	33					0	0	0.004007	0	0
RNF103	7844	broad.mit.edu	37	2	86839319	86839319	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:86839319T>A	ENST00000237455.4	-	3	1413	c.445A>T	c.(445-447)Ata>Tta	p.I149L	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	149					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CCTGTACGTATTCCAAATCTT	0.378000													23	77					0	0	0.003330	0	0
ARID1A	8289	broad.mit.edu	37	1	27101084	27101084	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:27101084C>T	ENST00000324856.7	+	18	4737	c.4366C>T	c.(4366-4368)Cca>Tca	p.P1456S	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1073S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1456					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAACCAATTTCCATTCCAGTT	0.582000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								20	106					0	0	0.001523	0	0
KCNB1	3745	broad.mit.edu	37	20	48098557	48098557	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:48098557G>A	ENST00000371741.4	-	1	627	c.461C>T	c.(460-462)aCc>aTc	p.T154I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	154					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCCCGTAGGGTCTCGGCCTC	0.577000													16	115					0	0	0.004007	0	0
GSTCD	79807	broad.mit.edu	37	4	106766676	106766676	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:106766676C>T	ENST00000515279.1	+	12	2064	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	GSTCD_ENST00000394728.3_Missense_Mutation_p.S615F|GSTCD_ENST00000360505.5_Missense_Mutation_p.S615F|GSTCD_ENST00000394730.3_Missense_Mutation_p.S528F|GSTCD_ENST00000515255.1_3'UTR			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	615						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CAAGTGATATCCATGGAGCCA	0.433000													15	31					0	0	0.003163	0	0
KPRP	448834	broad.mit.edu	37	1	152733110	152733110	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:152733110C>T	ENST00000368773.1	+	2	1104	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	KPRP_ENST00000606109.1_Missense_Mutation_p.P349L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	349	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGATTCCTCCCATCAGACGC	0.652000													8	40					0	0	0.006214	0	0
DZIP3	9666	broad.mit.edu	37	3	108363192	108363192	+	Silent	SNP	C	C	T	rs149165938		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:108363192C>T	ENST00000361582.3	+	14	1553	c.1323C>T	c.(1321-1323)acC>acT	p.T441T	DZIP3_ENST00000463306.1_Silent_p.T441T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	441					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATCTTTGGACCAATCATCCTT	0.408000													37	48					0	0	0.004878	0	0
JAM2	58494	broad.mit.edu	37	21	27062285	27062285	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr21:27062285G>A	ENST00000480456.1	+	3	791	c.241_splice	c.e3+1	p.G81_splice	JAM2_ENST00000312957.5_Splice_Site_p.G81_splice|JAM2_ENST00000400532.1_Splice_Site_p.G81_splice|JAM2_ENST00000425221.2_Intron	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	81	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GACTCTTCAAGGTAAGCAGCT	0.443000													24	75					0	0	0.003330	0	0
OR2T12	127064	broad.mit.edu	37	1	248458364	248458364	+	Missense_Mutation	SNP	C	C	T	rs146983185		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:248458364C>T	ENST00000317996.1	-	1	516	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D173N(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AAGAAGTGATCGATCTCGTGT	0.562000													22	63					0	0	0.001882	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451278	110451278	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:110451278G>A	ENST00000378402.5	+	32	4017	c.3913G>A	c.(3913-3915)Gat>Aat	p.D1305N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1305	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGAAAACATGATATCTATGT	0.403000										HNSCC(38;0.096)			105	98					0	0	0.003610	0	0
PITHD1	57095	broad.mit.edu	37	1	24106421	24106421	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:24106421G>A	ENST00000246151.4	+	3	421	c.310G>A	c.(310-312)Gag>Aag	p.E104K		NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	104	PITH.									haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						ACACCCCTCTGAGATGAGACT	0.413000													44	51					0	0	0.003610	0	0
DSC1	1823	broad.mit.edu	37	18	28713961	28713961	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr18:28713961G>A	ENST00000257197.3	-	13	2270	c.2009C>T	c.(2008-2010)cCa>cTa	p.P670L	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P670L	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	670	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACACTCAGATGGAGTTGAACA	0.363000													24	89					0	0	0.006320	0	0
XPO4	64328	broad.mit.edu	37	13	21371181	21371181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr13:21371181G>A	ENST00000400602.2	-	17	2373	c.2338C>T	c.(2338-2340)Cag>Tag	p.Q780*	XPO4_ENST00000255305.6_Nonsense_Mutation_p.Q780*	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	780					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AATCGCTGCTGAAGTGGCTGA	0.408000													8	28					0	0	0.004482	0	0
LFNG	3955	broad.mit.edu	37	7	2566817	2566817	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:2566817C>T	ENST00000222725.5	+	8	1131	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	LFNG_ENST00000402506.1_Missense_Mutation_p.P300S|LFNG_ENST00000402045.1_Missense_Mutation_p.P242S|LFNG_ENST00000359574.3_Intron|LFNG_ENST00000338732.3_Missense_Mutation_p.P242S	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	371					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CCCGGACACACCCTGGTGTCC	0.652000													6	21					0	0	0.001984	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516048	138516048	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:138516048G>A	ENST00000371763.1	-	5	979	c.726C>T	c.(724-726)ttC>ttT	p.F242F		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	242					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ATTCTTTGATGAAGTCTAAAA	0.398000													38	53					0	0	0.007835	0	0
IGHG4	3503	broad.mit.edu	37	14	106091440	106091440	+	RNA	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:106091440C>T	ENST00000390543.2	-	0	453																											AACTGGACCTCGGGGTCTTCC	0.587000													29	38					0	0	0.001786	0	0
FNDC8	54752	broad.mit.edu	37	17	33454267	33454267	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:33454267C>T	ENST00000158009.5	+	2	531	c.416C>T	c.(415-417)cCc>cTc	p.P139L		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	139										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		GCGCTCGGCCCCTGCCCATGC	0.572000													72	64					0	0	0.003610	0	0
NLRP8	126205	broad.mit.edu	37	19	56466504	56466504	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:56466504G>A	ENST00000291971.3	+	3	1151	c.1080G>A	c.(1078-1080)atG>atA	p.M360I	NLRP8_ENST00000590542.1_Missense_Mutation_p.M360I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	360	NACHT.					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)		TTAATACGATGGAAAAAATCA	0.458000													36	44					0	0	0.003755	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374249	95374249	+	RNA	SNP	A	A	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:95374249A>T	ENST00000494840.1	-	0	1612					NR_077228.1																						GCATTCCAACAATTTTTGACC	0.468000													17	16					0	0	0.004990	0	0
COMP	1311	broad.mit.edu	37	19	18897365	18897365	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:18897365G>A	ENST00000542601.2	-	10	1521	c.1132C>T	c.(1132-1134)Ccc>Tcc	p.P378S	COMP_ENST00000222271.2_Missense_Mutation_p.P411S|COMP_ENST00000425807.1_Missense_Mutation_p.P358S			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	411					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CTCTTCTGGGGACAGTTGTCA	0.597000													23	44					0	0	0.003954	0	0
POM121L12	285877	broad.mit.edu	37	7	53103940	53103940	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:53103940C>T	ENST00000408890.4	+	1	592	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	192										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCTAGGTTCGACGGGCCGT	0.701000													30	59					0	0	0.002445	0	0
CKAP5	9793	broad.mit.edu	37	11	46797807	46797807	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:46797807C>T	ENST00000529230.1	-	24	3035	c.2989G>A	c.(2989-2991)Gag>Aag	p.E997K	CKAP5_ENST00000354558.3_Missense_Mutation_p.E997K|CKAP5_ENST00000312055.5_Missense_Mutation_p.E997K|CKAP5_ENST00000415402.1_Missense_Mutation_p.E997K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	997					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATACTAACCTCTTGCCTCAAG	0.408000													17	19					0	0	0.006122	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869541	36869541	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:36869541G>A	ENST00000279024.4	-	3	1263	c.992C>T	c.(991-993)tCc>tTc	p.S331F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	331										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATTTCCCAAGGAAGGTCCTTC	0.488000													52	270					0	0	0.003610	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130764859	130764859	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:130764859G>A	ENST00000509018.1	-	27	4721	c.4516C>T	c.(4516-4518)Ccc>Tcc	p.P1506S	RAPGEF6_ENST00000507093.1_Intron|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.P1514S|FNIP1_ENST00000514667.1_Missense_Mutation_p.P1556S|RAPGEF6_ENST00000307984.5_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1506					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GGAGGAGTGGGAGGTGGCTCC	0.448000													22	45					0	0	0.005443	0	0
KEL	3792	broad.mit.edu	37	7	142658181	142658181	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:142658181C>T	ENST00000355265.2	-	4	708	c.234G>A	c.(232-234)gaG>gaA	p.E78E	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	78					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACACAGATGTCTCACAGGGGC	0.552000													9	59					0	0	0.004482	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854129	12854129	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:12854129G>A	ENST00000332296.7	+	3	456	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	118										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGGCCTGGAGCCTGGGCC	0.532000													12	375					0	0	0.003610	0	0
RBP3	5949	broad.mit.edu	37	10	48389645	48389645	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:48389645C>T	ENST00000224600.4	-	1	1346	c.1233G>A	c.(1231-1233)gtG>gtA	p.V411V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	411	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACTCTGGGGCCACCCCTGGTG	0.652000													7	44					0	0	0.001984	0	0
HRASLS	57110	broad.mit.edu	37	3	192973511	192973511	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:192973511C>T	ENST00000264735.2	+	2	481	c.387C>T	c.(385-387)ttC>ttT	p.F129F	HRASLS_ENST00000602513.1_Silent_p.F24F	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	24										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		TCGAAGTGTTCCGTCCTGGCT	0.493000													45	149					0	0	0.003610	0	0
EPAS1	2034	broad.mit.edu	37	2	46607658	46607658	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:46607658C>T	ENST00000263734.3	+	12	2357	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	616					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGCAAAGCATCCCTGCCACCG	0.592000													54	98					0	0	0.003610	0	0
TSIX	9383	broad.mit.edu	37	X	73040652	73040652	+	RNA	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:73040652C>T	ENST00000604411.1	+	0	28613				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TTCTGCATTTCACATCAGTTC	0.363000													11	7					0	0	0.008291	0	0
SLC38A1	81539	broad.mit.edu	37	12	46622995	46622995	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:46622995C>T	ENST00000398637.5	-	5	949	c.255G>A	c.(253-255)atG>atA	p.M85I	SLC38A1_ENST00000552197.1_Missense_Mutation_p.M85I|SLC38A1_ENST00000546893.1_Missense_Mutation_p.M85I|SLC38A1_ENST00000549049.1_Missense_Mutation_p.M85I|SLC38A1_ENST00000439706.1_Missense_Mutation_p.M85I|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	85					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TCCCACTGCCCATAATGGCGT	0.423000													10	22					0	0	0.000978	0	0
RAB6B	51560	broad.mit.edu	37	3	133558452	133558452	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:133558452G>A	ENST00000285208.4	-	5	648	c.299C>T	c.(298-300)tCc>tTc	p.S100F	RAB6B_ENST00000486858.1_Missense_Mutation_p.S87F|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Missense_Mutation_p.S100F	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	100					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						CTGTTGGAAGGAGTTGAGATC	0.557000													25	46					0	0	0.004656	0	0
TOP2B	7155	broad.mit.edu	37	3	25640942	25640942	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:25640942G>A	ENST00000435706.2	-	35	4880	c.4679C>T	c.(4678-4680)tCc>tTc	p.S1560F	TOP2B_ENST00000540199.1_Missense_Mutation_p.S417F|TOP2B_ENST00000542520.1_Missense_Mutation_p.S417F|TOP2B_ENST00000264331.4_Missense_Mutation_p.S1565F			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1565					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGTTGTTTTGGATGTTTTCCT	0.383000													12	11					0	0	0.002450	0	0
ADAM18	8749	broad.mit.edu	37	8	39467047	39467047	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:39467047C>T	ENST00000265707.5	+	5	356	c.311C>T	c.(310-312)tCa>tTa	p.S104L	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.S104L|ADAM18_ENST00000520772.1_Missense_Mutation_p.S104L	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	104					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTCCAAATTCATTTGTGACA	0.318000													30	22					0	0	0.003271	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560437	44560437	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr18:44560437C>T	ENST00000332567.4	-	1	1551	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	400					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCAGATTTTCCAGTCTTTTT	0.478000													16	73					0	0	0.004007	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43926991	43926991	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:43926991C>T	ENST00000282406.4	+	8	1004	c.894C>T	c.(892-894)tcC>tcT	p.S298S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	298						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGGAAGATCCAAGTCCAGAT	0.517000													146	307					0	0	0.003610	0	0
URGCP	55665	broad.mit.edu	37	7	43917430	43917430	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:43917430G>A	ENST00000336086.6	-	4	3739	c.1503C>T	c.(1501-1503)ccC>ccT	p.P501P	URGCP_ENST00000443736.1_Silent_p.P501P|URGCP_ENST00000453200.1_Silent_p.P544P|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Silent_p.P501P|URGCP_ENST00000223341.7_Silent_p.P501P|URGCP_ENST00000402306.3_Silent_p.P535P			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	544					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCCGAGGAGGGATCATGGC	0.637000													14	42					0	0	0.004007	0	0
FAM131B	9715	broad.mit.edu	37	7	143054391	143054391	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:143054391C>T	ENST00000409408.1	-	5	2216	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	FAM131B_ENST00000409578.1_Missense_Mutation_p.E186K|FAM131B_ENST00000443739.2_Missense_Mutation_p.E198K|FAM131B_ENST00000409222.3_Missense_Mutation_p.E170K|FAM131B_ENST00000409346.1_Missense_Mutation_p.E170K			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	170										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCCATCAGTTCCTGGTAGTTG	0.542000													61	120					0	0	0.003610	0	0
SLX4	84464	broad.mit.edu	37	16	3632685	3632685	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:3632685G>A	ENST00000294008.3	-	15	5803	c.5163C>T	c.(5161-5163)tcC>tcT	p.S1721S	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1721	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.|Poly-Ser.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CAAACTCACAGGAGGAAGAAC	0.592000								Direct reversal of damage					3	19					0	0	0.004672	0	0
HMGB4	127540	broad.mit.edu	37	1	34330205	34330205	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:34330205A>C	ENST00000522796.1	+	4	2318	c.413A>C	c.(412-414)gAg>gCg	p.E138A	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.E138A|HMGB4_ENST00000425537.1_3'UTR			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	138						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACAGACCTGGAGAAGCACCCT	0.522000													41	31					0	0	0.006230	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656924	8656924	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:8656924C>T	ENST00000270328.4	-	13	1917	c.1651G>A	c.(1651-1653)Ggg>Agg	p.G551R	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G551R|ADAMTS10_ENST00000595838.1_Silent_p.G41G			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	551	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GTCCACGGCCCCCAGGCTCCG	0.687000													13	38					0	0	0.001855	0	0
DSG3	1830	broad.mit.edu	37	18	29052340	29052340	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr18:29052340G>A	ENST00000257189.4	+	13	2074	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	664					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGCTCAGAAGGAACAATTCAT	0.458000													17	53					0	0	0.006122	0	0
EPPK1	83481	broad.mit.edu	37	8	144945717	144945717	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:144945717G>A	ENST00000525985.1	-	2	1776	c.1705C>T	c.(1705-1707)Cca>Tca	p.P569S				P58107	EPIPL_HUMAN	epiplakin 1	569						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCTCTCCTGGTGTCACGGTG	0.642000													4	20					0	0	0.000248	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12923992	12923992	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:12923992C>T	ENST00000221486.4	+	7	827	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	245					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						CCAGACCATCCTGGAGAAAGA	0.592000													12	17					0	0	0.002450	0	0
PCLO	27445	broad.mit.edu	37	7	82584073	82584073	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:82584073C>T	ENST00000423517.2	-	5	6533	c.6196G>A	c.(6196-6198)Gaa>Aaa	p.E2066K	PCLO_ENST00000333891.8_Missense_Mutation_p.E2066K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1997					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						ATAAGTTCTTCATAGGCAGCA	0.453000													28	69					0	0	0.002096	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895515	42895515	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:42895515G>A	ENST00000399770.2	+	1	232	c.232G>A	c.(232-234)Gat>Aat	p.D78N		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	78					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAATGACCAGGATAGCTTGCT	0.458000													41	131					0	0	0.002522	0	0
SALL1	6299	broad.mit.edu	37	16	51173898	51173898	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:51173898C>T	ENST00000440970.1	-	2	2375	c.1944G>A	c.(1942-1944)acG>acA	p.T648T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.T745T	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	745					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T745T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GATTCCCTTTCGTGGTGAAAG	0.547000													13	28					0	0	0.001368	0	0
OR1B1	347169	broad.mit.edu	37	9	125391383	125391383	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:125391383G>A	ENST00000304833.3	-	1	469	c.432C>T	c.(430-432)gcC>gcT	p.A144A	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CTAGTAAGCAGGCACACCGTT	0.542000													14	14					0	0	0.006122	0	0
UNC13A	23025	broad.mit.edu	37	19	17756847	17756847	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:17756847C>T	ENST00000428389.2	-	19	2381	c.2382G>A	c.(2380-2382)ggG>ggA	p.G794G	UNC13A_ENST00000552293.1_Silent_p.G706G|UNC13A_ENST00000551649.1_Silent_p.G706G|UNC13A_ENST00000550896.1_Silent_p.G704G|UNC13A_ENST00000252773.7_Silent_p.G706G|UNC13A_ENST00000519716.2_Silent_p.G706G			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	706					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCTTGGTCTTCCCGACCTGGA	0.567000													17	17					0	0	0.006122	0	0
HGD	3081	broad.mit.edu	37	3	120394654	120394654	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:120394654G>A	ENST00000283871.5	-	2	531	c.72C>T	c.(70-72)tcC>tcT	p.S24S	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	24					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CTTCTGGCAGGGAACCTGGGC	0.473000													55	70					0	0	0.003610	0	0
DET1	55070	broad.mit.edu	37	15	89073862	89073862	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:89073862G>A	ENST00000564406.1	-	3	1268	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S	DET1_ENST00000268148.8_Missense_Mutation_p.P359S|DET1_ENST00000444300.1_Missense_Mutation_p.P370S	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	359						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ACCTGTGATGGATCTGTGACT	0.448000													24	61					0	0	0.004656	0	0
XIST	7503	broad.mit.edu	37	X	73066030	73066030	+	RNA	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:73066030C>T	ENST00000429829.1	-	0	6558					NR_001564.2																						GAAAAAGGGCCTTGGTGATCA	0.493000													27	27					0	0	0.008361	0	0
NSL1	25936	broad.mit.edu	37	1	212964981	212964981	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:212964981G>A	ENST00000366977.3	-	1	143	c.125C>T	c.(124-126)tCg>tTg	p.S42L	NSL1_ENST00000366976.1_Missense_Mutation_p.S42L|NSL1_ENST00000366975.6_Missense_Mutation_p.S42L|NSL1_ENST00000422588.2_Missense_Mutation_p.S42L	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	42					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		AGCCCGCTTCGAGGTGCAGCG	0.642000													46	78					0	0	0.002852	0	0
GRIN2C	2905	broad.mit.edu	37	17	72850838	72850838	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:72850838G>A	ENST00000293190.5	-	2	540	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	GRIN2C_ENST00000347612.4_Missense_Mutation_p.P132S|GRIN2C_ENST00000578159.1_Intron	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	132					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TGCACCTTGGGGGTGAGGACC	0.622000													5	27					0	0	0.001168	0	0
C10orf113	387638	broad.mit.edu	37	10	21414812	21414812	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:21414812G>A	ENST00000534331.1	-	2	458	c.408C>T	c.(406-408)ttC>ttT	p.F136F	C10orf113_ENST00000529198.1_3'UTR|C10orf113_ENST00000377118.4_Silent_p.F126F|NEBL_ENST00000417816.2_Intron	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	136										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTATGCCCTGGAATTTAAATC	0.433000													19	59					0	0	0.008871	0	0
BEST2	54831	broad.mit.edu	37	19	12865723	12865723	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:12865723G>A	ENST00000549706.1	+	5	838	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	BEST2_ENST00000553030.1_Missense_Mutation_p.E172K|BEST2_ENST00000042931.1_Missense_Mutation_p.E172K			Q8NFU1	BEST2_HUMAN	bestrophin 2	172					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CAAGAAGTTTGAAAACCTGAA	0.622000													6	19					0	0	0.001984	0	0
KDR	3791	broad.mit.edu	37	4	55961114	55961114	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:55961114C>T	ENST00000263923.4	-	21	3121	c.2826G>A	c.(2824-2826)ggG>ggA	p.G942G		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	942	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGAATCGTGCCCCTTTGGTCT	0.433000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			10	53					0	0	0.006214	0	0
PDE1C	5137	broad.mit.edu	37	7	32109987	32109987	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:32109987C>T	ENST00000396184.3	-	2	223	c.19G>A	c.(19-21)Gag>Aag	p.E7K	PDE1C_ENST00000396182.2_Missense_Mutation_p.E7K|PDE1C_ENST00000396191.1_Missense_Mutation_p.E7K|PDE1C_ENST00000321453.7_Missense_Mutation_p.E7K|PDE1C_ENST00000396193.1_Intron	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	7					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCTTCAATCTCCTTGGTTGGC	0.537000													38	85					0	0	0.004289	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813401	106813401	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:106813401G>A	ENST00000407775.2	+	8	1341	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R95Q|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R232Q|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R232Q|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	364					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTGCCTTCCGATGTAATCAC	0.507000													118	115					0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760578	176760578	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:176760578G>A	ENST00000367662.3	+	19	6144	c.4980G>A	c.(4978-4980)ctG>ctA	p.L1660L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1660	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTCAGAGCTGAATTCTGTGG	0.443000													21	26					0	0	0.001882	0	0
CBX8	57332	broad.mit.edu	37	17	77768979	77768979	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:77768979C>T	ENST00000269385.4	-	5	742	c.625G>A	c.(625-627)Gac>Aac	p.D209N		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	209					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGTGAGGGGTCCGGGAGCTCC	0.662000													11	14					0	0	0.002450	0	0
KRT3	3850	broad.mit.edu	37	12	53186124	53186124	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:53186124G>A	ENST00000417996.2	-	5	1161	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	KRT3_ENST00000309505.3_Missense_Mutation_p.R363C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	363	Linker 12.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCCAGGGAGCGATTATTGTCC	0.522000													12	30					0	0	0.001368	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170333	107170333	+	RNA	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:107170333G>T	ENST00000390633.2	-	0	95																											TGTAGCTGCTGCCACCACAAA	0.522000													5	43					2.7689e-08	3.67226e-08	0.001984	1	0
TTC29	83894	broad.mit.edu	37	4	147830247	147830247	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:147830247C>T	ENST00000513335.1	-	6	608	c.409G>A	c.(409-411)Gag>Aag	p.E137K	TTC29_ENST00000325106.4_Missense_Mutation_p.E111K|TTC29_ENST00000398886.4_Missense_Mutation_p.E137K			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	111							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGCTGCTCCTCCAGGGGCTTC	0.577000													24	66					0	0	0.006320	0	0
TTC29	83894	broad.mit.edu	37	4	147830248	147830248	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:147830248C>T	ENST00000513335.1	-	6	607	c.408G>A	c.(406-408)ctG>ctA	p.L136L	TTC29_ENST00000325106.4_Silent_p.L110L|TTC29_ENST00000398886.4_Silent_p.L136L			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	110							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCTGCTCCTCCAGGGGCTTCT	0.577000													25	66					0	0	0.007291	0	0
MECOM	2122	broad.mit.edu	37	3	168845762	168845762	+	Missense_Mutation	SNP	T	T	A	rs145122238		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:168845762T>A	ENST00000464456.1	-	4	1336	c.136A>T	c.(136-138)Act>Tct	p.T46S	MECOM_ENST00000494292.1_Missense_Mutation_p.T234S|MECOM_ENST00000460814.1_Missense_Mutation_p.T46S|MECOM_ENST00000433243.2_Missense_Mutation_p.T46S|MECOM_ENST00000468789.1_Missense_Mutation_p.T46S|MECOM_ENST00000472280.1_Missense_Mutation_p.T46S|MECOM_ENST00000264674.3_Missense_Mutation_p.T110S|MECOM_ENST00000392736.3_Missense_Mutation_p.T46S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAGTGAGGAGTACTGCATGGA	0.433000													43	72					0	0	0.007835	0	0
DNAH5	1767	broad.mit.edu	37	5	13814899	13814899	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:13814899G>A	ENST00000265104.4	-	43	7149	c.7045C>T	c.(7045-7047)Ctg>Ttg	p.L2349L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2349	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L2349L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGAATTCAGATTTTCAATC	0.393000									Kartagener syndrome				11	35					0	0	0.001368	0	0
APLNR	187	broad.mit.edu	37	11	57003509	57003509	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:57003509G>A	ENST00000606794.1	-	1	1166	c.970C>T	c.(970-972)Ctc>Ttc	p.L324F		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	324						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCACAGCAGAGCATGGAGGTG	0.642000													14	28					0	0	0.002450	0	0
CACNA1E	777	broad.mit.edu	37	1	181727964	181727964	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:181727964C>T	ENST00000526775.1	+	31	4673	c.4508C>T	c.(4507-4509)tCc>tTc	p.S1503F	CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1473F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S1503F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1129F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S1522F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1454F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S1522F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1522					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGGTGTTTTCCCTGGAATGT	0.478000													43	47					0	0	0.003610	0	0
AP2A2	161	broad.mit.edu	37	11	984647	984647	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:984647C>T	ENST00000448903.2	+	7	849	c.708C>T	c.(706-708)atC>atT	p.I236I	AP2A2_ENST00000534328.1_Silent_p.I236I|AP2A2_ENST00000332231.5_Silent_p.I236I	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	236					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCTTACAGATCGTGACGTCTG	0.557000													57	65					0	0	0.003610	0	0
ACSL1	2180	broad.mit.edu	37	4	185684408	185684408	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:185684408G>A	ENST00000515030.1	-	16	1759	c.1432_splice	c.e16-1	p.G478_splice	ACSL1_ENST00000513317.1_Splice_Site_p.G478_splice|ACSL1_ENST00000454703.2_Splice_Site_p.G307_splice|ACSL1_ENST00000507295.1_Splice_Site_p.G444_splice|ACSL1_ENST00000281455.2_Splice_Site_p.G478_splice|ACSL1_ENST00000504342.1_Splice_Site_p.G478_splice|ACSL1_ENST00000437665.3_Splice_Site_p.G307_splice			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	478					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCCCAACATGGCCTGTATATT	0.428000													8	25					0	0	0.006214	0	0
MED12L	116931	broad.mit.edu	37	3	150908586	150908586	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:150908586C>G	ENST00000474524.1	+	13	1874	c.1836C>G	c.(1834-1836)ttC>ttG	p.F612L	MED12L_ENST00000422248.2_Missense_Mutation_p.F612L|MED12L_ENST00000309237.4_Missense_Mutation_p.F612L|MED12L_ENST00000273432.4_Missense_Mutation_p.F472L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	612					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGATGTCTTCTCCCATGACG	0.488000													26	35					0	0	0.005443	0	0
LSM4	25804	broad.mit.edu	37	19	18420504	18420504	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:18420504C>T	ENST00000593829.1	-	4	565	c.312G>A	c.(310-312)atG>atA	p.M104I	LSM4_ENST00000252816.5_Missense_Mutation_p.M90I	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	104					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(3)	6						CAGCGCCGCCCATGCCGCGGC	0.677000													17	52					0	0	0.008871	0	0
COQ4	51117	broad.mit.edu	37	9	131094458	131094458	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:131094458C>T	ENST00000300452.3	+	5	752	c.429C>T	c.(427-429)ccC>ccT	p.P143P	COQ4_ENST00000461102.1_3'UTR	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	143					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						CCCGAGCACCCACCCGCTTCG	0.597000													3	4					0	0	0.004672	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101574609	101574609	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:101574609C>T	ENST00000326172.5	+	9	1802	c.1687C>T	c.(1687-1689)Cac>Tac	p.H563Y	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.H441Y|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.H463Y	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	563	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AGTCATAGCCCACAATGCTGT	0.438000													11	68					0	0	0.001368	0	0
PRSS35	167681	broad.mit.edu	37	6	84233463	84233463	+	Silent	SNP	A	A	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:84233463A>G	ENST00000536636.1	+	3	648	c.303A>G	c.(301-303)caA>caG	p.Q101Q	PRSS35_ENST00000369700.3_Silent_p.Q101Q	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TGAAAGTTCAAGATTTGGTTC	0.458000													39	30					0	0	0.004289	0	0
SLC38A10	124565	broad.mit.edu	37	17	79250839	79250839	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:79250839A>G	ENST00000374759.3	-	7	1104	c.721T>C	c.(721-723)Tac>Cac	p.Y241H	SLC38A10_ENST00000288439.5_Missense_Mutation_p.Y241H|SLC38A10_ENST00000546352.1_5'UTR	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	241					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACCATGACGTAGAAGGTGGTG	0.592000													25	30					0	0	0.005443	0	0
TET1	80312	broad.mit.edu	37	10	70446317	70446317	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:70446317C>T	ENST00000373644.4	+	11	5466	c.5257C>T	c.(5257-5259)Cgt>Tgt	p.R1753C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1753					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCCTGTTCCCCGTTCTGGAAA	0.502000													16	46					0	0	0.008871	0	0
STEAP1B	256227	broad.mit.edu	37	7	22532979	22532979	+	Silent	SNP	G	G	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:22532979G>C	ENST00000404369.4	-	3	976	c.561C>G	c.(559-561)tcC>tcG	p.S187S	STEAP1B_ENST00000406890.2_Silent_p.S168S	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	168						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						TGTATCTGTAGGATCGCCTCA	0.368000													9	29					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179396737	179396737	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:179396737C>T	ENST00000589042.1	-	358	104829	c.104605G>A	c.(104605-104607)Gaa>Aaa	p.E34869K	TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25804K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25929K|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32301K|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25996K|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33228K|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33228							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTCATCTTCGTATTCCTCA	0.527000													8	29					0	0	0.006214	0	0
PARL	55486	broad.mit.edu	37	3	183551569	183551569	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:183551569G>A	ENST00000317096.4	-	8	933	c.873C>T	c.(871-873)atC>atT	p.I291I	PARL_ENST00000311101.5_Silent_p.I241I|PARL_ENST00000435888.1_Intron	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	291					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCCTTCTGGGATCTTAGTGC	0.478000													19	67					0	0	0.002299	0	0
AOAH	313	broad.mit.edu	37	7	36552800	36552800	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:36552800G>A	ENST00000431169.1	-	22	2205	c.1905C>T	c.(1903-1905)ctC>ctT	p.L635L	AOAH_ENST00000538464.1_3'UTR|AOAH_ENST00000258749.5_3'UTR|AOAH_ENST00000535891.1_3'UTR	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTTGTGGAATGAGTTTACCCA	0.547000													16	72					0	0	0.006122	0	0
VPS9D1	9605	broad.mit.edu	37	16	89777064	89777064	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:89777064G>A	ENST00000561976.1	-	9	1355	c.978C>T	c.(976-978)ggC>ggT	p.G326G	VPS9D1_ENST00000389386.3_Silent_p.G396G					VPS9 domain containing 1																		GTACCCCACGGCCCCGGCCCT	0.682000													8	11					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9083586	9083586	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:9083586C>T	ENST00000397910.4	-	1	8432	c.8229G>A	c.(8227-8229)tcG>tcA	p.S2743S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2743	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCACTGTGATCGAACCTTCAT	0.463000													54	86					0	0	0.003610	0	0
HRASLS	57110	broad.mit.edu	37	3	192973512	192973512	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:192973512C>T	ENST00000264735.2	+	2	482	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	HRASLS_ENST00000602513.1_Missense_Mutation_p.R25C	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	25										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		CGAAGTGTTCCGTCCTGGCTA	0.488000													44	153					0	0	0.003214	0	0
CD209	30835	broad.mit.edu	37	19	7809871	7809871	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:7809871C>T	ENST00000315599.7	-	5	878	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	CD209_ENST00000301357.8_Missense_Mutation_p.E150K|CD209_ENST00000602261.1_Missense_Mutation_p.E194K|CD209_ENST00000354397.6_Missense_Mutation_p.E286K|CD209_ENST00000601951.1_Missense_Mutation_p.E262K|CD209_ENST00000601256.1_Missense_Mutation_p.E262K|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.E125K|CD209_ENST00000593821.1_Missense_Mutation_p.E150K|CD209_ENST00000593660.1_Missense_Mutation_p.E216K|CD209_ENST00000315591.8_Missense_Mutation_p.E262K|CD209_ENST00000204801.8_Missense_Mutation_p.E242K	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	286	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCCCCACTTCTTTGCAGGCG	0.587000													12	71					0	0	0.002450	0	0
RP1	6101	broad.mit.edu	37	8	55540389	55540389	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:55540389C>T	ENST00000220676.1	+	4	4095	c.3947C>T	c.(3946-3948)gCt>gTt	p.A1316V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1316					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)			AAGGCTTGTGCTCAAAAGGAG	0.413000													27	117					0	0	0.007291	0	0
SEL1L2	80343	broad.mit.edu	37	20	13850804	13850804	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:13850804C>T	ENST00000284951.5	-	13	1224	c.1150G>A	c.(1150-1152)Gga>Aga	p.G384R	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.G384R			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	384						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ACTCCTTTTCCATGAAAGTAA	0.333000													28	53					0	0	0.002445	0	0
TEX19	400629	broad.mit.edu	37	17	80320467	80320467	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:80320467G>A	ENST00000333437.4	+	2	751	c.441G>A	c.(439-441)tgG>tgA	p.W147*		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	147						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GTCTTCCCTGGAGATTTGAGG	0.597000													30	27					0	0	0.007291	0	0
MAST4	375449	broad.mit.edu	37	5	66416869	66416869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:66416869C>T	ENST00000404260.3	+	14	2001	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*	MAST4_ENST00000405643.1_Nonsense_Mutation_p.R383*|MAST4_ENST00000403625.2_Nonsense_Mutation_p.R562*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.R368*|MAST4_ENST00000403666.1_Nonsense_Mutation_p.R373*			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	565						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCTGAAACTTCGAAGGAAACC	0.313000													4	14					0	0	0.000602	0	0
SPAG16	79582	broad.mit.edu	37	2	214354720	214354720	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:214354720C>T	ENST00000331683.5	+	10	1071	c.976C>T	c.(976-978)Cca>Tca	p.P326S	SPAG16_ENST00000374309.3_Missense_Mutation_p.P232S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	326					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GCAACCAAATCCAAACCTGAA	0.353000													86	79					0	0	0.003610	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449345	104449345	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:104449345G>A	ENST00000361820.3	-	2	1437	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	279					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAAGGAGGAGGAAGTCGGTGA	0.473000													57	57					0	0	0.003610	0	0
MYCN	4613	broad.mit.edu	37	2	16086120	16086120	+	Silent	SNP	C	C	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:16086120C>A	ENST00000281043.3	+	3	1593	c.1296C>A	c.(1294-1296)tcC>tcA	p.S432S		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	432	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			ATGTCCACTCCCTCCAGGCCG	0.512000			A		neuroblastoma								45	182					6.68952e-21	8.95848e-21	0.003214	1	0
CTSE	1510	broad.mit.edu	37	1	206318330	206318330	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:206318330C>T	ENST00000361052.3	+	2	206	c.88C>T	c.(88-90)Ccg>Tcg	p.P30S	CTSE_ENST00000360218.2_Missense_Mutation_p.P30S|CTSE_ENST00000432969.2_Intron|CTSE_ENST00000358184.2_Missense_Mutation_p.P30S			P14091	CATE_HUMAN	cathepsin E	30					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CAGGAGGCATCCGTCCCTCAA	0.557000													36	44					0	0	0.004289	0	0
RORA	6095	broad.mit.edu	37	15	60907162	60907162	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:60907162C>T	ENST00000309157.4	-	2	271	c.202G>A	c.(202-204)Gga>Aga	p.G68R	RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000261523.5_Intron|RORA_ENST00000335670.6_Intron|RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000559824.1_RNA	NM_002943.3	NP_002934.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	71	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GCTGTGGCTCCATCCCAGTTT	0.468000													9	29					0	0	0.004482	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218848	134218848	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:134218848C>T	ENST00000305233.5	+	2	903	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	PWWP2B_ENST00000368609.4_Missense_Mutation_p.P282S	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	282										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCCTTCCGTCCCCAGCAGGC	0.706000													11	18					0	0	0.002450	0	0
TRPS1	7227	broad.mit.edu	37	8	116599332	116599332	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:116599332G>A	ENST00000395715.3	-	5	3173	c.2596C>T	c.(2596-2598)Ctg>Ttg	p.L866L	TRPS1_ENST00000519076.1_Silent_p.L607L|TRPS1_ENST00000519674.1_Silent_p.L853L|TRPS1_ENST00000220888.5_Silent_p.L853L|TRPS1_ENST00000520276.1_Silent_p.L857L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	853					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)			GCCCCCTGCAGGAATCCCTTG	0.577000									Langer-Giedion syndrome				22	31					0	0	0.002780	0	0
HSD17B2	3294	broad.mit.edu	37	16	82101883	82101883	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:82101883G>A	ENST00000199936.4	+	2	567	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	125					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GAGGAATTGCGAAGAACCTGC	0.527000													10	38					0	0	0.008291	0	0
PCMTD2	55251	broad.mit.edu	37	20	62891364	62891364	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:62891364G>T	ENST00000308824.6	+	2	173	c.46G>T	c.(46-48)Gat>Tat	p.D16Y	PCMTD2_ENST00000299468.7_Missense_Mutation_p.D16Y|PCMTD2_ENST00000369758.3_Missense_Mutation_p.D16Y	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	16						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGAGCTGATAGATAATTTGAA	0.378000													14	78					3.52763e-06	4.62497e-06	0.004990	1	0
AKAP4	8852	broad.mit.edu	37	X	49957642	49957642	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:49957642G>A	ENST00000376056.2	-	5	1845	c.1695C>T	c.(1693-1695)acC>acT	p.T565T	AKAP4_ENST00000358526.2_Silent_p.T574T|AKAP4_ENST00000376058.2_Silent_p.T191T|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.T565T			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	574					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TATAGCCCATGGTGGAACCAG	0.483000													23	17					0	0	0.002299	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17063206	17063206	+	Silent	SNP	C	C	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:17063206C>A	ENST00000262096.8	+	7	1214	c.519C>A	c.(517-519)ctC>ctA	p.L173L		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	173						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AGTTCTTTCTCCTTTTCTTGG	0.328000													41	65					2.19358e-23	2.94334e-23	0.005524	1	0
SERPINA4	5267	broad.mit.edu	37	14	95033392	95033392	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:95033392G>A	ENST00000557004.1	+	3	1156	c.735G>A	c.(733-735)atG>atA	p.M245I	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.M245I|SERPINA4_ENST00000298841.5_Missense_Mutation_p.M245I			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	245					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGGTGCCCATGATGCTGCAGG	0.498000													14	48					0	0	0.001855	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127325	45127325	+	RNA	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:45127325C>T	ENST00000575173.1	-	0	418																											TCACAAAACTCGCTCCCGCAT	0.408000													82	394					0	0	0.003610	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294734	110294734	+	Silent	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:110294734G>T	ENST00000369805.3	-	15	1549	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P	EPS8L3_ENST00000361852.4_Intron|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Silent_p.P439P	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	439						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCCTGGAGTTGGGGTCCCCAG	0.562000													55	225					3.36121e-32	4.51888e-32	0.003610	1	0
DCDC1	341019	broad.mit.edu	37	11	31086035	31086035	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:31086035G>A	ENST00000597505.1	-	18	2571	c.2572C>T	c.(2572-2574)Cct>Tct	p.P858S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAAGCCTTAGGATGTTTCTCT	0.453000													67	82					0	0	0.003610	0	0
NXF1	10482	broad.mit.edu	37	11	62562463	62562463	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:62562463C>T	ENST00000532297.1	-	19	2150	c.1521G>A	c.(1519-1521)cgG>cgA	p.R507R	NXF1_ENST00000294172.2_Silent_p.R507R|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	507	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAAAGAATCCCGGGACTTTC	0.438000													32	26					0	0	0.004289	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661150	77661150	+	Silent	SNP	T	T	G	rs143936832	byFrequency	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:77661150T>G	ENST00000296043.6	+	5	2777	c.1824T>G	c.(1822-1824)gcT>gcG	p.A608A		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	608					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCCTCAGGCTCAGGCCTGGC	0.562000													32	121					0	0	0.001786	0	0
PCLO	27445	broad.mit.edu	37	7	82545198	82545198	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:82545198T>C	ENST00000423517.2	-	7	12441	c.12104A>G	c.(12103-12105)tAt>tGt	p.Y4035C	PCLO_ENST00000333891.8_Missense_Mutation_p.Y4035C|PCLO_ENST00000437081.1_Missense_Mutation_p.Y755C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3966					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						AATATCTGCATAGAAAGAATC	0.403000													39	77					0	0	0.004289	0	0
TAPBPL	55080	broad.mit.edu	37	12	6562851	6562851	+	Silent	SNP	A	A	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:6562851A>T	ENST00000266556.7	+	3	699	c.534A>T	c.(532-534)ccA>ccT	p.P178P	TAPBPL_ENST00000544021.1_Silent_p.P101P|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	178					antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TGAACTTGCCACTGAGCCCCC	0.557000													12	23					0	0	0.001855	0	0
CAB39L	81617	broad.mit.edu	37	13	49924970	49924970	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr13:49924970G>A	ENST00000355854.4	-	5	971	c.474C>T	c.(472-474)atC>atT	p.I158I	CAB39L_ENST00000409130.1_Silent_p.I14I|CAB39L_ENST00000409308.1_Silent_p.I158I|CAB39L_ENST00000347776.5_Silent_p.I158I|CAB39L_ENST00000410043.1_Silent_p.I158I	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	158					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AAAAGAGGATGATTTTGGCAA	0.368000													14	45					0	0	0.003163	0	0
MAML3	55534	broad.mit.edu	37	4	140811906	140811906	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:140811906G>A	ENST00000509479.2	-	2	1540	c.684C>T	c.(682-684)ccC>ccT	p.P228P	MAML3_ENST00000327122.5_Silent_p.P72P	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	228					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGTTCTGCAAGGGCAAAGAAG	0.483000													15	42					0	0	0.003163	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41447372	41447372	+	RNA	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:41447372G>A	ENST00000599198.1	+	0	871					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GCTCCACATGGAAAAAGTGGG	0.567000													31	50					0	0	0.008361	0	0
SLIT3	6586	broad.mit.edu	37	5	168098445	168098445	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:168098445C>T	ENST00000519560.1	-	34	4304	c.3885G>A	c.(3883-3885)acG>acA	p.T1295T	SLIT3_ENST00000332966.8_Silent_p.T1302T|SLIT3_ENST00000404867.3_Silent_p.T1295T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1295	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGCCGGTCCGTGCCCTGGC	0.667000													7	19					0	0	0.001984	0	0
NBPF1	55672	broad.mit.edu	37	1	16907915	16907915	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:16907915C>T	ENST00000430580.2	-	15	2266	c.1379_splice	c.e15+1	p.R460_splice		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	460	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCAGTGTTACCTGGGGGCAGA	0.438000													63	523					0	0	0.003610	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711624	155711624	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:155711624G>A	ENST00000295101.2	+	3	1782	c.1305G>A	c.(1303-1305)atG>atA	p.M435I		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	435					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ACTTGCCCATGAAACTTCAAC	0.428000													50	67					0	0	0.003610	0	0
MOV10L1	54456	broad.mit.edu	37	22	50555768	50555768	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:50555768C>T	ENST00000262794.5	+	9	1525	c.1442C>T	c.(1441-1443)aCc>aTc	p.T481I	MOV10L1_ENST00000395858.3_Missense_Mutation_p.T481I|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.T461I|MOV10L1_ENST00000545383.1_Missense_Mutation_p.T481I	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	481					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTTGTTGTGACCGCACAGAAA	0.473000													6	32					0	0	0.001984	0	0
ITGAM	3684	broad.mit.edu	37	16	31332564	31332564	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:31332564G>A	ENST00000544665.3	+	15	1784	c.1713G>A	c.(1711-1713)cgG>cgA	p.R571R	ITGAM_ENST00000287497.8_Silent_p.R570R	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	570					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACCCTCAGCGGATAGCAGGCT	0.522000													41	138					0	0	0.003610	0	0
OR1D2	4991	broad.mit.edu	37	17	2995982	2995982	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:2995982G>A	ENST00000331459.1	-	1	308	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	103					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AGGAGACCAGGAAGTAGAGCT	0.542000													70	75					0	0	0.003610	0	0
URGCP	55665	broad.mit.edu	37	7	43917431	43917431	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:43917431G>A	ENST00000336086.6	-	4	3738	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L	URGCP_ENST00000443736.1_Missense_Mutation_p.P501L|URGCP_ENST00000453200.1_Missense_Mutation_p.P544L|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.P501L|URGCP_ENST00000223341.7_Missense_Mutation_p.P501L|URGCP_ENST00000402306.3_Missense_Mutation_p.P535L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	544					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCGAGGAGGGATCATGGCC	0.632000													14	40					0	0	0.004007	0	0
FCGR3A	2214	broad.mit.edu	37	1	161512867	161512867	+	Nonsense_Mutation	SNP	G	G	A	rs1042207	byFrequency	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:161512867G>A	ENST00000367969.3	-	5	991	c.808C>T	c.(808-810)Cga>Tga	p.R270*	FCGR3A_ENST00000443193.1_Nonsense_Mutation_p.R269*|FCGR3A_ENST00000436743.1_Nonsense_Mutation_p.R234*|FCGR3A_ENST00000540048.1_Nonsense_Mutation_p.R234*	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	234					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	p.R270*(2)		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)	GTTGAGCTTCGAATGTTTGTC	0.443000													4	115					0	0	0.000602	0	0
MAP3K6	9064	broad.mit.edu	37	1	27685037	27685037	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:27685037G>A	ENST00000493901.1	-	21	2888	c.2649C>T	c.(2647-2649)ctC>ctT	p.L883L	MAP3K6_ENST00000357582.2_Silent_p.L883L|MAP3K6_ENST00000374040.3_Silent_p.L875L	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	883	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGTTCGGAGGAGAAAGGCTT	0.637000													33	42					0	0	0.006230	0	0
ACTN2	88	broad.mit.edu	37	1	236917271	236917271	+	Missense_Mutation	SNP	G	G	A	rs138452803	byFrequency	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:236917271G>A	ENST00000366578.4	+	16	2030	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	ACTN2_ENST00000542672.1_Missense_Mutation_p.D622N|ACTN2_ENST00000546208.1_Missense_Mutation_p.D116N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	622					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCCCATCCGCGATCAATCCCT	0.582000													49	78					0	0	0.003610	0	0
ZNF208	7757	broad.mit.edu	37	19	22156959	22156959	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:22156959C>T	ENST00000397126.4	-	4	1025	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTACTAAAGGCTTTGCCACAT	0.398000													12	42					0	0	0.002450	0	0
MIA3	375056	broad.mit.edu	37	1	222832074	222832074	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:222832074C>G	ENST00000344922.5	+	19	4643	c.4618C>G	c.(4618-4620)Caa>Gaa	p.Q1540E	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.Q1540E|MIA3_ENST00000340535.7_Missense_Mutation_p.Q418E	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1540					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAACTGAGTCAAGAAGAGTA	0.408000													9	336					0	0	0.006214	0	0
ARRB2	409	broad.mit.edu	37	17	4624283	4624283	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:4624283G>A	ENST00000269260.2	+	15	1412	c.1179G>A	c.(1177-1179)cgG>cgA	p.R393R	ARRB2_ENST00000381488.6_Silent_p.R378R|ARRB2_ENST00000571206.1_Silent_p.R201R|ARRB2_ENST00000346341.2_Silent_p.R390R|ARRB2_ENST00000572457.1_Silent_p.R201R|ARRB2_ENST00000575877.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.R414R|ARRB2_ENST00000574954.1_Silent_p.R201R	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	393	Interaction with AP2B1.|Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACTTTGCCCGGCTTCGGCTGA	0.562000													58	64					0	0	0.003610	0	0
KCTD14	65987	broad.mit.edu	37	11	77728067	77728067	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:77728067C>T	ENST00000353172.5	-	2	384	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	NDUFC2-KCTD14_ENST00000528251.1_3'UTR|KCTD14_ENST00000533144.1_Missense_Mutation_p.E84K	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	114	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GGCTTGATTTCGTAGAACTGA	0.562000													13	30					0	0	0.003163	0	0
SYT10	341359	broad.mit.edu	37	12	33579237	33579237	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:33579237T>G	ENST00000228567.3	-	2	641	c.345A>C	c.(343-345)gaA>gaC	p.E115D	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	115						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTCCTTAATTTCTTTTTTCT	0.418000													20	84					0	0	0.001882	0	0
ACTN2	88	broad.mit.edu	37	1	236925828	236925828	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:236925828G>A	ENST00000366578.4	+	21	2760	c.2594G>A	c.(2593-2595)aGg>aAg	p.R865K	ACTN2_ENST00000542672.1_Missense_Mutation_p.R865K|ACTN2_ENST00000546208.1_Missense_Mutation_p.R359K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	865					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGCATCAAGAGGATGCCCGCC	0.597000													11	50					0	0	0.001368	0	0
EDC4	23644	broad.mit.edu	37	16	67913992	67913992	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:67913992C>T	ENST00000358933.5	+	17	2209	c.1970C>T	c.(1969-1971)cCc>cTc	p.P657L		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	657	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACCTTGAGCCCCAAGCTGCAG	0.652000													4	32					0	0	0.000602	0	0
COQ4	51117	broad.mit.edu	37	9	131094457	131094457	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:131094457C>T	ENST00000300452.3	+	5	751	c.428C>T	c.(427-429)cCc>cTc	p.P143L	COQ4_ENST00000461102.1_3'UTR	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	143					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						ACCCGAGCACCCACCCGCTTC	0.597000													3	4					0	0	0.004672	0	0
IQSEC1	9922	broad.mit.edu	37	3	12950932	12950932	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:12950932A>C	ENST00000273221.4	-	11	2677	c.2461T>G	c.(2461-2463)Tac>Gac	p.Y821D		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	821	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCATTGGGGTAGTCTGCAAAA	0.537000													38	42					0	0	0.006999	0	0
MTMR7	9108	broad.mit.edu	37	8	17206493	17206493	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:17206493G>A	ENST00000180173.5	-	5	600	c.566C>T	c.(565-567)cCt>cTt	p.P189L	MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_Missense_Mutation_p.P189L	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	189	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		AGAAAGGACAGGAAATCGCCG	0.428000													16	38					0	0	0.006122	0	0
FAM83B	222584	broad.mit.edu	37	6	54806762	54806762	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:54806762G>A	ENST00000306858.7	+	5	3109	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	998										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAGTTTCGAGGATTTATGCAA	0.348000													8	9					0	0	0.003080	0	0
SEZ6L	23544	broad.mit.edu	37	22	26702042	26702042	+	Silent	SNP	G	G	A	rs142670064		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:26702042G>A	ENST00000529632.2	+	6	1642	c.1446G>A	c.(1444-1446)acG>acA	p.T482T	SEZ6L_ENST00000343706.4_Silent_p.T482T|SEZ6L_ENST00000404234.3_Silent_p.T482T|SEZ6L_ENST00000403121.1_Silent_p.T255T|SEZ6L_ENST00000360929.3_Silent_p.T482T|SEZ6L_ENST00000402979.1_Silent_p.T255T|SEZ6L_ENST00000248933.6_Silent_p.T482T	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	482	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCATCTGGACGATTGAAGCTC	0.562000													29	41					0	0	0.006320	0	0
PTPRK	5796	broad.mit.edu	37	6	128294823	128294823	+	Silent	SNP	C	C	T	rs138416879		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:128294823C>T	ENST00000368227.3	-	29	4536	c.4170G>A	c.(4168-4170)acG>acA	p.T1390T	PTPRK_ENST00000532331.1_Silent_p.T1395T|PTPRK_ENST00000368210.3_Silent_p.T1391T|PTPRK_ENST00000368226.4_Silent_p.T1373T|PTPRK_ENST00000368215.3_Silent_p.T1372T|PTPRK_ENST00000368213.5_Silent_p.T1379T|PTPRK_ENST00000368207.3_Silent_p.T1405T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1372	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGTGGATAATCGTCCGGCCTT	0.483000													45	56					0	0	0.003610	0	0
HMGB4	127540	broad.mit.edu	37	1	34330204	34330204	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:34330204G>A	ENST00000522796.1	+	4	2317	c.412G>A	c.(412-414)Gag>Aag	p.E138K	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.E138K|HMGB4_ENST00000425537.1_3'UTR			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	138						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GACAGACCTGGAGAAGCACCC	0.527000													41	31					0	0	0.006230	0	0
CACNA1S	779	broad.mit.edu	37	1	201039473	201039473	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:201039473C>T	ENST00000362061.3	-	17	2513	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E763K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	763					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGCTGCAGCTCAGCCAGGGGA	0.607000													24	110					0	0	0.006320	0	0
TOP1	7150	broad.mit.edu	37	20	39750646	39750646	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:39750646G>A	ENST00000361337.2	+	20	2296	c.2045_splice	c.e20-1	p.K682_splice	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	682					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	ATTCTTCTAGGGTAGTAGAGT	0.468000			T	NUP98	AML*								47	54					0	0	0.003610	0	0
PAXIP1	22976	broad.mit.edu	37	7	154754118	154754118	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:154754118G>A	ENST00000404141.1	-	10	2194	c.2040C>T	c.(2038-2040)gtC>gtT	p.V680V	PAXIP1_ENST00000397192.1_Silent_p.V680V|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	680	BRCT 3.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TCTTCTTTAAGACTGTGTTTA	0.438000													24	53					0	0	0.003330	0	0
SDK1	221935	broad.mit.edu	37	7	4247841	4247841	+	Silent	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:4247841G>T	ENST00000404826.2	+	37	5464	c.5325G>T	c.(5323-5325)ctG>ctT	p.L1775L	SDK1_ENST00000389531.3_Silent_p.L1755L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1775	Fibronectin type-III 11.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAAGTACCTGGTCAGCATAT	0.602000													6	38					7.48243e-07	9.84756e-07	0.006214	1	0
TRANK1	9881	broad.mit.edu	37	3	36899476	36899476	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:36899476G>A	ENST00000429976.2	-	12	1852	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	TRANK1_ENST00000428977.2_5'UTR|TRANK1_ENST00000301807.6_5'UTR			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	535					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGAGGTAGTCGAATTCAGTGG	0.498000													14	32					0	0	0.002450	0	0
BCL3	602	broad.mit.edu	37	19	45254542	45254542	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:45254542C>T	ENST00000164227.5	+	2	559	c.315C>T	c.(313-315)aaC>aaT	p.N105N		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	105	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CTCTGGTGAACCTGCCTACAC	0.597000			T	IGH@	CLL								10	806					0	0	0.006214	0	0
PCLO	27445	broad.mit.edu	37	7	82764399	82764399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:82764399G>A	ENST00000423517.2	-	3	2804	c.2467C>T	c.(2467-2469)Cga>Tga	p.R823*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.R823*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	769	Pro-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						GATGCAGGTCGAGGTATGGCT	0.438000													81	154					0	0	0.003610	0	0
PDZD8	118987	broad.mit.edu	37	10	119042949	119042949	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:119042949C>T	ENST00000334464.5	-	5	3534	c.3295G>A	c.(3295-3297)Gaa>Aaa	p.E1099K		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1099					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTATATCTTCAATGCCTGCT	0.358000													11	28					0	0	0.001368	0	0
GABRB3	2562	broad.mit.edu	37	15	26792988	26792988	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:26792988G>A	ENST00000541819.2	-	10	1644	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	GABRB3_ENST00000400188.3_Silent_p.F387F|GABRB3_ENST00000299267.4_Silent_p.F458F|GABRB3_ENST00000545868.1_Silent_p.F373F|GABRB3_ENST00000311550.5_Silent_p.F458F			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	458					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAGAAAAAGTGAATGGAAACA	0.373000													13	44					0	0	0.001855	0	0
RFWD2	64326	broad.mit.edu	37	1	176050324	176050324	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:176050324G>A	ENST00000367669.3	-	11	1755	c.1241C>T	c.(1240-1242)gCt>gTt	p.A414V	RFWD2_ENST00000308769.8_Missense_Mutation_p.A390V	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	414					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAGATCACTAGCATATGACAA	0.353000													29	174					0	0	0.008361	0	0
C5orf48	389320	broad.mit.edu	37	5	125971803	125971803	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:125971803G>A	ENST00000357147.3	+	3	288	c.275G>A	c.(274-276)gGg>gAg	p.G92E		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	92										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CTTTGCCATGGGGAAGATCGT	0.423000													26	93					0	0	0.005443	0	0
DDX49	54555	broad.mit.edu	37	19	19032527	19032527	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:19032527C>T	ENST00000247003.4	+	3	362	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	DDX49_ENST00000438170.2_5'UTR|AC002985.3_ENST00000596918.1_Intron	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	99	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GCCTCTAGGGCTGAAAGACTG	0.647000													31	60					0	0	0.005524	0	0
PCNT	5116	broad.mit.edu	37	21	47783511	47783511	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr21:47783511G>A	ENST00000359568.5	+	14	2378	c.2271G>A	c.(2269-2271)gaG>gaA	p.E757E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	757	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTATGAAGGAGGAGCTACAGC	0.413000													19	47					0	0	0.007413	0	0
KRT6B	3854	broad.mit.edu	37	12	52845395	52845395	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:52845395G>A	ENST00000252252.3	-	1	515	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	156	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCACCCGCTGGATGGCGGGGT	0.617000													11	74					0	0	0.001523	0	0
ACTN2	88	broad.mit.edu	37	1	236925829	236925829	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:236925829G>A	ENST00000366578.4	+	21	2761	c.2595G>A	c.(2593-2595)agG>agA	p.R865R	ACTN2_ENST00000542672.1_Silent_p.R865R|ACTN2_ENST00000546208.1_Silent_p.R359R	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	865					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCATCAAGAGGATGCCCGCCT	0.597000													11	49					0	0	0.001368	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969259	140969259	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:140969259C>T	ENST00000298296.1	+	4	586	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	196	MAGE 1.							p.L196I(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTTTCTTCTCCTCAAATA	0.443000													34	39					0	0	0.004289	0	0
FABP7	2173	broad.mit.edu	37	6	123101437	123101437	+	Splice_Site	SNP	C	C	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:123101437C>A	ENST00000356535.4	+	2	111	c.73_splice	c.e2-1	p.G25_splice	FABP7_ENST00000368444.3_Splice_Site_p.G25_splice			O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	25					negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)	CTATTTTAGGCGTGGGCTTTG	0.448000													21	27					2.21704e-12	2.95748e-12	0.002780	1	0
FCGBP	8857	broad.mit.edu	37	19	40408528	40408528	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:40408528C>T	ENST00000221347.6	-	8	4318	c.4311G>A	c.(4309-4311)ggG>ggA	p.G1437G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1437	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGTCCTCGCTCCCCGGCGGGC	0.647000													25	53					0	0	0.005443	0	0
LRP2	4036	broad.mit.edu	37	2	170103467	170103467	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:170103467G>A	ENST00000263816.3	-	21	3223	c.2938C>T	c.(2938-2940)Cct>Tct	p.P980S	LRP2_ENST00000443831.1_Missense_Mutation_p.P843S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	980	EGF-like 4.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCACCGTTAGGATGCGTGGGT	0.512000													15	49					0	0	0.004007	0	0
UNC13C	440279	broad.mit.edu	37	15	54307569	54307569	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:54307569G>A	ENST00000545554.1	+	1	2469	c.2469G>A	c.(2467-2469)gaG>gaA	p.E823E	UNC13C_ENST00000537900.1_Silent_p.E823E|UNC13C_ENST00000260323.11_Silent_p.E823E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	823					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTGGGTATGAGGACAGTGGCT	0.448000													4	44					0	0	0.000602	0	0
TP53	7157	broad.mit.edu	37	17	7578196	7578196	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:7578196A>C	ENST00000420246.2	-	6	785	c.653T>G	c.(652-654)gTg>gGg	p.V218G	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V218G|TP53_ENST00000413465.2_Missense_Mutation_p.V218G|TP53_ENST00000455263.2_Missense_Mutation_p.V218G|TP53_ENST00000269305.4_Missense_Mutation_p.V218G|TP53_ENST00000445888.2_Missense_Mutation_p.V218G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	218	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.V218E(8)|p.0?(8)|p.V218G(5)|p.V218del(5)|p.V218A(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCATAGGGCACCACCACACT	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	10					0	0	0.001368	0	0
SWI5	375757	broad.mit.edu	37	9	131038524	131038524	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr9:131038524C>T	ENST00000320188.4	+	1	100	c.100C>T	c.(100-102)Cct>Tct	p.P34S		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	34					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GGCCGGCTTTCCTTGGGTGCG	0.682000													10	13					0	0	0.006214	0	0
NBR1	4077	broad.mit.edu	37	17	41345540	41345540	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:41345540C>T	ENST00000422280.1	+	12	1868	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L	NBR1_ENST00000341165.6_Missense_Mutation_p.P470L|NBR1_ENST00000589872.1_Missense_Mutation_p.P470L|NBR1_ENST00000590996.1_Missense_Mutation_p.P470L|NBR1_ENST00000542611.1_Missense_Mutation_p.P449L|NBR1_ENST00000389312.4_Missense_Mutation_p.P470L	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	470					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CAATTTGGGCCTCGGGTCTGG	0.502000													14	9					0	0	0.003163	0	0
MYF6	4618	broad.mit.edu	37	12	81101829	81101829	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:81101829G>A	ENST00000228641.3	+	1	553	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	111	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAAAATCAACGAGGCCTTCGA	0.582000													9	42					0	0	0.006214	0	0
PTPRN2	5799	broad.mit.edu	37	7	157903556	157903556	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:157903556G>A	ENST00000409483.1	-	9	1612	c.1494C>T	c.(1492-1494)ctC>ctT	p.L498L	PTPRN2_ENST00000389418.4_Silent_p.L536L|PTPRN2_ENST00000389416.4_Silent_p.L519L|PTPRN2_ENST00000404321.2_Silent_p.L559L|PTPRN2_ENST00000389413.3_Intron			Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	536						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L536L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCACCTGCAGGAGGCGGGCGA	0.662000													7	9					0	0	0.003080	0	0
EGLN1	54583	broad.mit.edu	37	1	231557539	231557539	+	Silent	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:231557539G>T	ENST00000366641.3	-	1	3251	c.96C>A	c.(94-96)cgC>cgA	p.R32R		NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	32					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	AGCGGCTGCAGCGCAGCAGGT	0.692000													10	8					4.68919e-08	6.19514e-08	0.008291	1	0
RYR3	6263	broad.mit.edu	37	15	33954696	33954696	+	Silent	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:33954696G>T	ENST00000389232.4	+	35	5035	c.4965G>T	c.(4963-4965)gtG>gtT	p.V1655V	RYR3_ENST00000415757.3_Silent_p.V1655V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1655	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCCTGGGGTGGGCCTGAGAA	0.557000													11	42					0.000978159	0.00127272	0.000978	1	0
KCND3	3752	broad.mit.edu	37	1	112329705	112329705	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:112329705G>T	ENST00000369697.1	-	2	1199	c.1130C>A	c.(1129-1131)aCg>aAg	p.T377K	KCND3_ENST00000302127.4_Missense_Mutation_p.T377K|KCND3_ENST00000315987.2_Missense_Mutation_p.T377K			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	377						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CCCTGCAATCGTCTTAGGCAC	0.527000													31	42					2.42023e-17	3.23482e-17	0.003271	1	0
OR4A5	81318	broad.mit.edu	37	11	51411637	51411637	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:51411637G>A	ENST00000319760.6	-	1	811	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TAACATATATGAAAATACAGG	0.393000													19	12					0	0	0.008871	0	0
STXBP5L	9515	broad.mit.edu	37	3	120977927	120977927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:120977927C>T	ENST00000273666.6	+	18	2141	c.1870C>T	c.(1870-1872)Caa>Taa	p.Q624*	STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.Q624*|STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.Q624*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.Q624*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.Q624*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	624					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCCAGGATATCAAGCAGAACT	0.373000													30	18					0	0	0.001786	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475639	75475639	+	RNA	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:75475639T>C	ENST00000459803.1	-	0	890					NR_024241.1													p.H284R(1)									CTCTGGGTTGTGGACGGTAAA	0.662000													3	36					0	0	0.004672	0	0
PRRX1	5396	broad.mit.edu	37	1	170695431	170695431	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:170695431C>T	ENST00000239461.6	+	3	801	c.488C>T	c.(487-489)tCc>tTc	p.S163F	PRRX1_ENST00000367760.3_Missense_Mutation_p.S163F|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.S163F	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	163						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAAACGCTTCCCTCCTCAAA	0.547000													19	23					0	0	0.008871	0	0
FNDC8	54752	broad.mit.edu	37	17	33454268	33454268	+	Silent	SNP	C	C	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:33454268C>G	ENST00000158009.5	+	2	532	c.417C>G	c.(415-417)ccC>ccG	p.P139P		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	139										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CGCTCGGCCCCTGCCCATGCC	0.572000													71	65					0	0	0.003610	0	0
HOXA2	3199	broad.mit.edu	37	7	27140593	27140593	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:27140593G>A	ENST00000222718.5	-	2	1193	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	295						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAGCAGTTGGGAACAGTGGGT	0.493000													50	93					0	0	0.003610	0	0
SLC17A2	10246	broad.mit.edu	37	6	25926018	25926018	+	Missense_Mutation	SNP	C	C	T	rs141137330		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:25926018C>T	ENST00000377850.3	-	2	531	c.7G>A	c.(7-9)Ggg>Agg	p.G3R	SLC17A2_ENST00000265425.3_Missense_Mutation_p.G3R|SLC17A2_ENST00000360488.3_Missense_Mutation_p.G3R			O00624	NPT3_HUMAN	solute carrier family 17, member 2	3					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGGCTTCCCGTCCATTTAG	0.458000													78	109					0	0	0.003610	0	0
CYP3A4	1576	broad.mit.edu	37	7	99375658	99375658	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:99375658C>T	ENST00000336411.2	-	3	394	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	71					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CACCCCCACACTTTTCCATAC	0.388000													20	30					0	0	0.003954	0	0
MCM8	84515	broad.mit.edu	37	20	5963742	5963742	+	Missense_Mutation	SNP	C	C	T	rs61752704		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:5963742C>T	ENST00000378896.3	+	14	2041	c.1664C>T	c.(1663-1665)tCc>tTc	p.S555F	MCM8_ENST00000378886.2_Missense_Mutation_p.S595F|MCM8_ENST00000378883.1_Missense_Mutation_p.S508F|MCM8_ENST00000265187.4_Missense_Mutation_p.S539F	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	555	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GCAAGAACTTCCATTATTGCT	0.388000													23	27					0	0	0.002780	0	0
GPR133	283383	broad.mit.edu	37	12	131498747	131498747	+	Silent	SNP	C	C	T	rs144882598	byFrequency	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:131498747C>T	ENST00000261654.5	+	13	1894	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	GPR133_ENST00000376682.4_Silent_p.I131I|GPR133_ENST00000535015.1_Silent_p.I477I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I445I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCCAAGGATCGCGGAGGCCA	0.577000													9	39					0	0	0.008291	0	0
DNAJC13	23317	broad.mit.edu	37	3	132247127	132247127	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:132247127T>C	ENST00000260818.6	+	54	6724	c.6476T>C	c.(6475-6477)aTt>aCt	p.I2159T		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2159							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAGGCTCAGATTGTTAAAGCT	0.453000													34	49					0	0	0.002836	0	0
FNDC4	64838	broad.mit.edu	37	2	27715590	27715590	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:27715590C>T	ENST00000264703.3	-	6	1003	c.612G>A	c.(610-612)aaG>aaA	p.K204K		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	204						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTCCCTTCTCCTTGGGATTGT	0.542000													43	65					0	0	0.002852	0	0
GGA1	26088	broad.mit.edu	37	22	38010228	38010228	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:38010228C>T	ENST00000343632.4	+	2	461	c.75C>T	c.(73-75)ctC>ctT	p.L25L	GGA1_ENST00000337437.4_Silent_p.L25L|GGA1_ENST00000325180.8_Silent_p.L25L|GGA1_ENST00000414350.3_Silent_p.L25L|GGA1_ENST00000381756.5_Silent_p.L25L|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Silent_p.L25L	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	25	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACAAGGAGCTCGACTGGGCCA	0.602000													28	64					0	0	0.002096	0	0
PREX1	57580	broad.mit.edu	37	20	47274699	47274699	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:47274699G>A	ENST00000396220.1	-	17	1971	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	PREX1_ENST00000371941.3_Missense_Mutation_p.S650F			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	650	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTCTGGACGGACTTCACCAC	0.647000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	178	190					0	0	0.003610	0	0
BGN	633	broad.mit.edu	37	X	152773823	152773823	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:152773823C>T	ENST00000331595.4	+	8	1213	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.P282S	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	343						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACCCCGTGCCCTACTGGGA	0.592000													38	37					0	0	0.004878	0	0
LRP5	4041	broad.mit.edu	37	11	68153988	68153988	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:68153988C>G	ENST00000294304.7	+	6	1326	c.1220C>G	c.(1219-1221)gCg>gGg	p.A407G		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	407	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGTCTGGGGCGCAGACGCTG	0.647000													29	17					0	0	0.002096	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307974	46307974	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:46307974C>T	ENST00000221538.3	-	3	1331	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	RSPH6A_ENST00000597055.1_Missense_Mutation_p.E397K|RSPH6A_ENST00000600188.1_Missense_Mutation_p.E133K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	397	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ACGGccttctcctcgtcctcc	0.647000													14	18					0	0	0.001855	0	0
LGALS13	29124	broad.mit.edu	37	19	40095857	40095857	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:40095857G>A	ENST00000221797.4	+	3	177	c.132G>A	c.(130-132)atG>atA	p.M44I		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	44	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			ACACTGACATGGATGAGGATT	0.517000													24	24					0	0	0.003954	0	0
DEFA6	1671	broad.mit.edu	37	8	6782349	6782349	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:6782349G>A	ENST00000297436.2	-	2	334	c.294C>T	c.(292-294)tgC>tgT	p.C98C		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	98					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTCAGAGGCAGCAGAATCTGT	0.413000													8	45					0	0	0.004482	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457413	6457413	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:6457413T>A	ENST00000358945.3	-	13	2142	c.1702A>T	c.(1702-1704)Acc>Tcc	p.T568S	SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Missense_Mutation_p.T605S|SCNN1A_ENST00000228916.2_Missense_Mutation_p.T546S|SCNN1A_ENST00000543768.1_Missense_Mutation_p.T569S|SCNN1A_ENST00000540037.1_Missense_Mutation_p.T246S			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	546					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GACAGGAGGGTGACCATCTGT	0.592000													17	39					0	0	0.006122	0	0
CDC42	998	broad.mit.edu	37	1	22413183	22413183	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:22413183C>T	ENST00000344548.3	+	6	561	c.310C>T	c.(310-312)Cac>Tac	p.H104Y	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000400259.1_Missense_Mutation_p.H104Y|CDC42_ENST00000421089.2_Missense_Mutation_p.H146Y|CDC42_ENST00000315554.8_Missense_Mutation_p.H104Y	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	104					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GATAACTCACCACTGTCCAAA	0.378000													45	233					0	0	0.002522	0	0
TTC23L	153657	broad.mit.edu	37	5	34880300	34880300	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:34880300T>C	ENST00000505624.1	+	9	1067	c.964T>C	c.(964-966)Tat>Cat	p.Y322H	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	322							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TGTTGAGATATATTTCATAAG	0.348000													13	32					0	0	0.001368	0	0
IL31RA	133396	broad.mit.edu	37	5	55204257	55204257	+	Missense_Mutation	SNP	G	G	A	rs118134673	by1000genomes	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:55204257G>A	ENST00000396836.2	+	11	1711	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	IL31RA_ENST00000297015.3_Missense_Mutation_p.E365K|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000490985.1_Intron|IL31RA_ENST00000447346.2_Intron|IL31RA_ENST00000354961.4_Intron			Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	475	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CGCCCATAGCGAAGTGGAAAA	0.468000													8	28					0	0	0.006214	0	0
CUL9	23113	broad.mit.edu	37	6	43188593	43188593	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:43188593G>C	ENST00000252050.4	+	33	6616	c.6532G>C	c.(6532-6534)Ggg>Cgg	p.G2178R	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.G2068R|CUL9_ENST00000372647.2_Missense_Mutation_p.G2150R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2178					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCTGGGCTGTGGGACCACCTG	0.652000													5	10					0	0	0.001984	0	0
CCDC73	493860	broad.mit.edu	37	11	32635935	32635935	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:32635935C>T	ENST00000335185.5	-	16	1972	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	643										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AACTATATTTCTGACATGGAA	0.308000													14	18					0	0	0.002450	0	0
MGAT4A	11320	broad.mit.edu	37	2	99342746	99342746	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:99342746G>A	ENST00000393487.1	-	2	363	c.50C>T	c.(49-51)tCc>tTc	p.S17F	MGAT4A_ENST00000264968.2_Missense_Mutation_p.S17F|MGAT4A_ENST00000409391.1_Missense_Mutation_p.S17F|MGAT4A_ENST00000495056.2_Missense_Mutation_p.S17F	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	17					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AGTAAGGAAGGAAGTGATAAA	0.408000													13	32					0	0	0.006122	0	0
GALP	85569	broad.mit.edu	37	19	56691971	56691971	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:56691971C>T	ENST00000357330.2	+	3	186	c.104C>T	c.(103-105)aCc>aTc	p.T35I	GALP_ENST00000440823.1_Intron|GALP_ENST00000590002.1_Intron	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	35					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		GGAGGCTGGACCCTCAATAGT	0.607000													27	53					0	0	0.008361	0	0
GPR139	124274	broad.mit.edu	37	16	20043470	20043470	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:20043470G>A	ENST00000570682.1	-	2	949	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	217						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCACGGAGACGAAAATTGCTC	0.507000													17	39					0	0	0.004007	0	0
C15orf53	400359	broad.mit.edu	37	15	38990376	38990376	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:38990376C>T	ENST00000318792.1	+	2	180	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	57										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		gaacatctaacccagggccac	0.428000													9	28					0	0	0.004482	0	0
FRZB	2487	broad.mit.edu	37	2	183707234	183707234	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:183707234C>T	ENST00000295113.4	-	3	1173	c.564G>A	c.(562-564)aaG>aaA	p.K188K		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	188	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGAAATAGGTCTTCTGTGTAG	0.358000													34	71					0	0	0.003271	0	0
SGCZ	137868	broad.mit.edu	37	8	14095160	14095160	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:14095160C>T	ENST00000382080.1	-	4	1080	c.365G>A	c.(364-366)aGg>aAg	p.R122K	SGCZ_ENST00000421524.2_Missense_Mutation_p.R75K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	109					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGTGACATTCCTGTCAGACTG	0.383000													70	156					0	0	0.003610	0	0
PSMA1	5682	broad.mit.edu	37	11	14529245	14529245	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:14529245G>A	ENST00000530457.1	-	9	1147	c.617C>T	c.(616-618)cCa>cTa	p.P206L	PSMA1_ENST00000396394.2_Missense_Mutation_p.P231L|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000418988.2_Missense_Mutation_p.P237L|PSMA1_ENST00000396393.1_Missense_Mutation_p.P231L|PSMA1_ENST00000419365.2_3'UTR			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	231					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TTCCAGGAATGGAGACACATC	0.363000													46	42					0	0	0.003610	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555877	125555877	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:125555877T>C	ENST00000431078.1	+	19	3558	c.3194T>C	c.(3193-3195)gTt>gCt	p.V1065A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1065	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACTTCGTGGTTGTTCTGCTC	0.502000													11	74					0	0	0.001368	0	0
TP73	7161	broad.mit.edu	37	1	3638759	3638759	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:3638759G>A	ENST00000378295.4	+	5	759	c.604G>A	c.(604-606)Gac>Aac	p.D202N	TP73_ENST00000378290.4_Missense_Mutation_p.D131N|TP73_ENST00000346387.4_Missense_Mutation_p.D202N|TP73_ENST00000357733.3_Missense_Mutation_p.D202N|TP73_ENST00000354437.4_Missense_Mutation_p.D202N|TP73_ENST00000603362.1_Missense_Mutation_p.D202N|TP73_ENST00000378288.4_Missense_Mutation_p.D153N|TP73_ENST00000604479.1_Missense_Mutation_p.D202N|TP73_ENST00000604074.1_Missense_Mutation_p.D202N|TP73_ENST00000378280.1_Missense_Mutation_p.D153N|TP73_ENST00000378285.1_Missense_Mutation_p.D153N	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	202	DNA-binding (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GCTCGGGAGGGACTTCAACGA	0.657000													11	37					0	0	0.000978	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572111	76572111	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:76572111C>T	ENST00000307431.8	+	20	3476	c.3091C>T	c.(3091-3093)Cat>Tat	p.H1031Y	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H959Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H983Y|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.H1035Y	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1032					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGCTTCATTTCATGGTGATAT	0.368000													12	46					0	0	0.000978	0	0
OR5T2	219464	broad.mit.edu	37	11	56000188	56000188	+	Silent	SNP	A	A	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:56000188A>G	ENST00000313264.4	-	1	549	c.474T>C	c.(472-474)gcT>gcC	p.A158A		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGCGATCATAAGCCATTGCAG	0.443000													61	52					0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141215198	141215198	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:141215198C>T	ENST00000389484.3	-	61	10619	c.9648G>A	c.(9646-9648)ggG>ggA	p.G3216G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3216					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGCAATCACCCCTGGAATAT	0.423000										TSP Lung(27;0.18)			30	133					0	0	0.002096	0	0
EPHA6	285220	broad.mit.edu	37	3	96963139	96963139	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:96963139C>T	ENST00000470610.2	+	5	1657	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F	EPHA6_ENST00000389672.5_Intron			Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATGGTAAGTTCCACTGCTGTT	0.393000													23	39					0	0	0.003330	0	0
MSTN	2660	broad.mit.edu	37	2	190922360	190922360	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:190922360G>A	ENST00000260950.4	-	3	884	c.752C>T	c.(751-753)cCg>cTg	p.P251L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	251					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CTCTAAAAACGGATTCTGTTT	0.368000													12	31					0	0	0.001855	0	0
CRLF1	9244	broad.mit.edu	37	19	18707560	18707560	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:18707560G>A	ENST00000392386.3	-	6	1089	c.896C>T	c.(895-897)gCc>gTc	p.A299V		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	299	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TTTCAGGCCGGCCAGGCGGCA	0.642000													20	17					0	0	0.008871	0	0
KRT84	3890	broad.mit.edu	37	12	52779191	52779191	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:52779191G>A	ENST00000257951.3	-	1	245	c.179C>T	c.(178-180)tCg>tTg	p.S60L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	60	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGTGAGTACGATCCAAAGGT	0.582000													11	55					0	0	0.000978	0	0
KCNT2	343450	broad.mit.edu	37	1	196577427	196577427	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:196577427C>T	ENST00000367433.5	-	1	114	c.13G>A	c.(13-15)Gag>Aag	p.E5K	KCNT2_ENST00000294725.8_Missense_Mutation_p.E5K|KCNT2_ENST00000367431.4_Missense_Mutation_p.E5K|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	5						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACTTCGCTCTCCAAATCAACC	0.512000													17	59					0	0	0.006122	0	0
RYR1	6261	broad.mit.edu	37	19	38969090	38969090	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:38969090C>T	ENST00000355481.4	+	31	4601	c.4470C>T	c.(4468-4470)aaC>aaT	p.N1490N	RYR1_ENST00000359596.3_Silent_p.N1490N|RYR1_ENST00000360985.3_Silent_p.N1490N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1490	6 X approximate repeats.|B30.2/SPRY 3.				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)	AGTGTAGCAACTGCTACATGG	0.607000													23	26					0	0	0.005443	0	0
OR8K1	390157	broad.mit.edu	37	11	56113718	56113718	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:56113718C>T	ENST00000279783.2	+	1	298	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F68F(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGTACTTTTTCCTTAGACATT	0.408000										HNSCC(65;0.19)			62	44					0	0	0.003610	0	0
NCOR2	9612	broad.mit.edu	37	12	124856641	124856641	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:124856641G>A	ENST00000356219.3	-	21	2889	c.2734C>T	c.(2734-2736)Ccc>Tcc	p.P912S	NCOR2_ENST00000405201.1_Missense_Mutation_p.P912S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P895S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P894S|NCOR2_ENST00000404121.2_Missense_Mutation_p.P465S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P894S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	912					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGTCCTGGGGGGCGCCCGAG	0.711000													8	43					0	0	0.001855	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42274653	42274653	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:42274653G>A	ENST00000389384.4	-	3	607	c.299C>T	c.(298-300)cCc>cTc	p.P100L	ATXN7L3_ENST00000454077.2_Missense_Mutation_p.P100L|ATXN7L3_ENST00000593073.1_Intron	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	100					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCCAGATGGGGAGCAAAGCG	0.597000													27	99					0	0	0.005443	0	0
CNTN5	53942	broad.mit.edu	37	11	99690330	99690330	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:99690330T>G	ENST00000524871.1	+	4	401	c.111T>G	c.(109-111)atT>atG	p.I37M	CNTN5_ENST00000527185.1_Missense_Mutation_p.I37M|CNTN5_ENST00000279463.3_Missense_Mutation_p.I37M|CNTN5_ENST00000528682.1_Missense_Mutation_p.I37M|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	37					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGTTAAGAATTAAGAAGAGTT	0.383000													16	79					0	0	0.004990	0	0
CEP72	55722	broad.mit.edu	37	5	620264	620264	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:620264C>T	ENST00000264935.5	+	3	381	c.291C>T	c.(289-291)ctC>ctT	p.L97L	CEP72_ENST00000444221.1_Silent_p.L97L	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	97					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGTTTCGGCTCCACGCCTTAA	0.532000													8	46					0	0	0.004482	0	0
LAMA5	3911	broad.mit.edu	37	20	60911420	60911420	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr20:60911420G>A	ENST00000252999.3	-	18	2365	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	767	Laminin EGF-like 9.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTTGCTGGGGCTCAGTCCC	0.622000													7	90					0	0	0.001984	0	0
ELAC2	60528	broad.mit.edu	37	17	12903502	12903502	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:12903502C>T	ENST00000338034.4	-	15	1633	c.1394G>A	c.(1393-1395)aGg>aAg	p.R465K	ELAC2_ENST00000426905.3_Missense_Mutation_p.R425K|ELAC2_ENST00000395962.2_Missense_Mutation_p.R446K	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	465					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CTGCGCACTCCTCCTGTACTC	0.567000													23	19					0	0	0.002299	0	0
HECW1	23072	broad.mit.edu	37	7	43484697	43484697	+	Silent	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:43484697T>C	ENST00000395891.1	+	11	2531	c.1926T>C	c.(1924-1926)aaT>aaC	p.N642N	HECW1_ENST00000453890.1_Silent_p.N642N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	642					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCTGGCCAATGGCGCGGCCC	0.711000													11	18					0	0	0.001368	0	0
RYR3	6263	broad.mit.edu	37	15	33927852	33927852	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:33927852C>T	ENST00000389232.4	+	26	3283	c.3213C>T	c.(3211-3213)atC>atT	p.I1071I	RYR3_ENST00000415757.3_Silent_p.I1071I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1071	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAGACAAGATCCGATTTTTCC	0.493000													8	19					0	0	0.004482	0	0
FNDC9	408263	broad.mit.edu	37	5	156770010	156770010	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:156770010G>A	ENST00000312349.4	-	2	722	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000347377.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	179						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TCCACCAGGGGGAGCCCCTGC	0.622000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	74					0	0	0.002780	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916194	9916194	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:9916194G>A	ENST00000396573.2	-	11	2404	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S	GRIN2A_ENST00000562109.1_Missense_Mutation_p.P699S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P699S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P699S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P542S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P699S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	699					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCATGTAGGGATAGTTATTC	0.458000													19	58					0	0	0.007413	0	0
GYS1	2997	broad.mit.edu	37	19	49477978	49477978	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:49477978G>A	ENST00000323798.3	-	11	1517	c.1321C>T	c.(1321-1323)Ccc>Tcc	p.P441S	GYS1_ENST00000544287.1_Missense_Mutation_p.P74S|GYS1_ENST00000263276.6_Missense_Mutation_p.P377S|GYS1_ENST00000541188.1_Missense_Mutation_p.P361S|GYS1_ENST00000540532.1_3'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	441					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CACACAGGGGGGAAAGACTGC	0.592000													11	57					0	0	0.003163	0	0
OR51B2	79345	broad.mit.edu	37	11	5345263	5345263	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:5345263C>T	ENST00000328813.2	-	1	319	c.265G>A	c.(265-267)Gag>Aag	p.E89K	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTAATCTCCCTGTGATTC	0.493000													44	21					0	0	0.008740	0	0
DNAH2	146754	broad.mit.edu	37	17	7710634	7710634	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr17:7710634G>A	ENST00000572933.1	+	62	11069	c.9609G>A	c.(9607-9609)atG>atA	p.M3203I	DNAH2_ENST00000389173.2_Missense_Mutation_p.M3203I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3203	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCGGGCCATGGAGGTAAAGG	0.667000													33	39					0	0	0.002836	0	0
SYNPO	11346	broad.mit.edu	37	5	150027788	150027788	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:150027788C>T	ENST00000394243.1	+	3	1057	c.683C>T	c.(682-684)cCa>cTa	p.P228L	SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000522122.1_Missense_Mutation_p.P228L|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	228					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGCCCTCCACGGCACCCC	0.677000													5	16					0	0	0.000602	0	0
PLCH2	9651	broad.mit.edu	37	1	2430220	2430220	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:2430220T>C	ENST00000449969.1	+	18	2467	c.2306T>C	c.(2305-2307)cTc>cCc	p.L769P	PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.L760P|PLCH2_ENST00000419816.2_Missense_Mutation_p.L796P|PLCH2_ENST00000288766.5_Missense_Mutation_p.L84P|PLCH2_ENST00000378486.3_Missense_Mutation_p.L796P			O75038	PLCH2_HUMAN	phospholipase C, eta 2	796	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ATCATTGGGCTCCCTGTGGAC	0.662000													5	14					0	0	0.001984	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791260	15791260	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:15791260G>A	ENST00000550308.1	+	5	836	c.456G>A	c.(454-456)acG>acA	p.T152T	CYP4F12_ENST00000324632.9_Silent_p.T152T	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGATGCTGACGCCCGCCTTCC	0.542000													20	33					0	0	0.007413	0	0
FREM2	341640	broad.mit.edu	37	13	39262764	39262764	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr13:39262764T>A	ENST00000280481.7	+	1	1499	c.1283T>A	c.(1282-1284)aTg>aAg	p.M428K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	428					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGCCTTCATGGTAGTGGTG	0.547000													21	47					0	0	0.001882	0	0
LIMA1	51474	broad.mit.edu	37	12	50642532	50642532	+	Translation_Start_Site	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:50642532C>T	ENST00000341247.4	-	2	152	c.3G>A	c.(1-3)atG>atA	p.M1I	LIMA1_ENST00000394943.3_Start_Codon_SNP_p.M1I	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	1					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAGATGATTCCATCTTGTCTA	0.413000													27	82					0	0	0.008361	0	0
CHST8	64377	broad.mit.edu	37	19	34263781	34263781	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:34263781G>A	ENST00000262622.3	+	4	1846	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	CHST8_ENST00000438847.2_Missense_Mutation_p.R363H|CHST8_ENST00000434302.1_Missense_Mutation_p.R363H	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	363					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AGCCTCATCCGCGCGCCGCGG	0.632000													10	35					0	0	0.008291	0	0
TEX35	84066	broad.mit.edu	37	1	178489992	178489992	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:178489992C>T	ENST00000367641.3	+	7	585	c.526C>T	c.(526-528)Cac>Tac	p.H176Y	TEX35_ENST00000367639.1_Missense_Mutation_p.H184Y|TEX35_ENST00000319416.2_Missense_Mutation_p.H176Y|TEX35_ENST00000367643.3_Missense_Mutation_p.H176Y|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000258298.2_Missense_Mutation_p.H100Y					testis expressed 35																		TCCCCTTCATCACTGTGGGAC	0.577000													15	32					0	0	0.004990	0	0
DPH6	89978	broad.mit.edu	37	15	35830567	35830567	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr15:35830567T>C	ENST00000440392.2	-	3	270	c.220A>G	c.(220-222)Ata>Gta	p.I74V	DPH6_ENST00000256538.4_Missense_Mutation_p.I74V	NM_001141972.1	NP_001135444.1			diphthamine biosynthesis 6																		CTTCCTCTTATGGTTCGGCGA	0.458000													28	91					0	0	0.004656	0	0
SGK223	157285	broad.mit.edu	37	8	8235332	8235332	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:8235332G>A	ENST00000520004.1	-	3	851	c.587C>T	c.(586-588)cCt>cTt	p.P196L	SGK223_ENST00000330777.4_Missense_Mutation_p.P196L			Q86YV5	SG223_HUMAN		196							ATP binding|non-membrane spanning protein tyrosine kinase activity										GTCTTGGTAAGGAAATGAGGG	0.627000													14	48					0	0	0.003163	0	0
STAB2	55576	broad.mit.edu	37	12	104138991	104138991	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:104138991C>T	ENST00000388887.2	+	57	6276	c.6072C>T	c.(6070-6072)atC>atT	p.I2024I		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2024					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGATGGCATCACGGGCTCCG	0.592000													14	54					0	0	0.001855	0	0
PRR23B	389151	broad.mit.edu	37	3	138739346	138739346	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:138739346G>A	ENST00000329447.5	-	1	422	c.158C>T	c.(157-159)gCc>gTc	p.A53V	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	53										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCGTCCACGGCCGGGTCCCC	0.751000													4	8					0	0	0.000602	0	0
ITGA9	3680	broad.mit.edu	37	3	37574877	37574877	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:37574877T>G	ENST00000264741.5	+	14	1702	c.1446T>G	c.(1444-1446)tgT>tgG	p.C482W	ITGA9_ENST00000422441.1_Missense_Mutation_p.C482W	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	482					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CGCCTCAGTGTCACGACGGAC	0.552000													17	30					0	0	0.006122	0	0
SYNE1	23345	broad.mit.edu	37	6	152652612	152652612	+	Missense_Mutation	SNP	G	G	A	rs139490297		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:152652612G>A	ENST00000367255.5	-	78	13809	c.13208C>T	c.(13207-13209)tCg>tTg	p.S4403L	SYNE1_ENST00000341594.5_Missense_Mutation_p.S4268L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4403L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4332L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4332L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4403					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.S4403L(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTATAAGCGATTTCAGGAG	0.522000										HNSCC(10;0.0054)			36	21					0	0	0.003755	0	0
COLGALT2	23127	broad.mit.edu	37	1	183933102	183933102	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:183933102G>A	ENST00000361927.4	-	6	1256	c.885C>T	c.(883-885)ccC>ccT	p.P295P	COLGALT2_ENST00000367520.3_Silent_p.P32P|COLGALT2_ENST00000546159.1_Silent_p.P295P	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		GGGGCTTCAGGGGGATGGGCA	0.527000													35	26					0	0	0.004289	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60369027	60369027	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:60369027C>T	ENST00000296597.5	+	2	330	c.203C>T	c.(202-204)cCa>cTa	p.P68L	NDUFAF2_ENST00000512623.1_3'UTR|NDUFAF2_ENST00000511107.1_Intron	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	68						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				GGGGATATTCCAACAGAATGG	0.313000													37	115					0	0	0.006999	0	0
NHLH1	4807	broad.mit.edu	37	1	160340656	160340656	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:160340656C>T	ENST00000302101.5	+	2	581	c.135C>T	c.(133-135)gcC>gcT	p.A45A		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	45					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGCCAGGCCCGAGGCCCAG	0.751000													7	20					0	0	0.003080	0	0
MCM7	4176	broad.mit.edu	37	7	99693042	99693042	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:99693042G>A	ENST00000303887.5	-	12	2292	c.1647C>T	c.(1645-1647)tcC>tcT	p.S549S	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Silent_p.S373S	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	549	Interaction with RAD17.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GTTCAAACTGGGAGGGGGGCT	0.587000													18	24					0	0	0.008871	0	0
UPK3A	7380	broad.mit.edu	37	22	45691447	45691447	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr22:45691447G>A	ENST00000216211.4	+	6	743	c.711G>A	c.(709-711)atG>atA	p.M237I	UPK3A_ENST00000396082.2_Missense_Mutation_p.M116I	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	237					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ACAGGGACATGGGGAGTTCTG	0.552000													65	161					0	0	0.003610	0	0
OR8K1	390157	broad.mit.edu	37	11	56114096	56114096	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr11:56114096C>T	ENST00000279783.2	+	1	676	c.582C>T	c.(580-582)ctC>ctT	p.L194L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGTCCATACTCTGTTCTGACA	0.338000										HNSCC(65;0.19)			51	48					0	0	0.003610	0	0
SAP130	79595	broad.mit.edu	37	2	128747140	128747140	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:128747140G>A	ENST00000357702.5	-	13	1987	c.1856C>T	c.(1855-1857)tCa>tTa	p.S619L	SAP130_ENST00000259235.3_Missense_Mutation_p.S619L|SAP130_ENST00000259234.6_Missense_Mutation_p.S593L	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	619					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAAATTACCTGAAGTCTTTCC	0.433000													100	67					0	0	0.003610	0	0
CHST4	10164	broad.mit.edu	37	16	71571651	71571651	+	Silent	SNP	G	G	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr16:71571651G>T	ENST00000338482.5	+	3	1414	c.1071G>T	c.(1069-1071)ctG>ctT	p.L357L	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.L357L|CHST4_ENST00000572450.1_Silent_p.L357L|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	357					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGAATTTGCTGGGCTACCGCC	0.517000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	49					1.58986e-06	2.08841e-06	0.008291	1	0
ATF7	11016	broad.mit.edu	37	12	53918499	53918499	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:53918499C>T	ENST00000420353.2	-	10	1123	c.974G>A	c.(973-975)cGc>cAc	p.R325H	ATF7_ENST00000328463.7_Missense_Mutation_p.R336H|ATF7_ENST00000548446.2_Missense_Mutation_p.R336H|ATF7_ENST00000456903.4_Missense_Mutation_p.R325H|ATF7_ENST00000546661.1_5'UTR|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.R325H|ATF7_ENST00000415113.1_Missense_Mutation_p.R304H	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	336					interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						ATCTACTGTGCGCCGCCGTCG	0.602000													7	17					0	0	0.001984	0	0
CDH17	1015	broad.mit.edu	37	8	95186333	95186333	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:95186333C>T	ENST00000027335.3	-	6	704	c.580G>A	c.(580-582)Gag>Aag	p.E194K	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.E194K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	194	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AACTTACCCTCTCGGGTAAGA	0.478000													63	97					0	0	0.003610	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182108	140182108	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:140182108C>T	ENST00000522353.2	+	1	1326	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S442S|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCGTGTCCGTGGAGGTGG	0.652000													23	84					0	0	0.002780	0	0
ROR1	4919	broad.mit.edu	37	1	64605887	64605887	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:64605887G>A	ENST00000545203.1	+	0	347				ROR1_ENST00000371080.1_Missense_Mutation_p.D236N|ROR1_ENST00000482426.1_3'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371079.1_Missense_Mutation_p.D236N			Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1						transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCCGTACTGCGATGAAACTTC	0.478000													53	44					0	0	0.003610	0	0
TM4SF19	116211	broad.mit.edu	37	3	196050869	196050869	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:196050869C>T	ENST00000446879.1	-	5	571		c.e5-1		TM4SF19_ENST00000273695.3_Splice_Site|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000454715.1_Splice_Site|TM4SF19-AS1_ENST00000444939.1_RNA			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19							integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CAGATAATTCCTATCCCAAAA	0.547000													7	23					0	0	0.001984	0	0
NLRP7	199713	broad.mit.edu	37	19	55439137	55439137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:55439137C>T	ENST00000588756.1	-	12	3303	c.2817G>A	c.(2815-2817)tgG>tgA	p.W939*	NLRP7_ENST00000592784.1_Nonsense_Mutation_p.W939*|NLRP7_ENST00000590030.1_Intron|NLRP7_ENST00000340844.2_Intron|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.W911*|NLRP7_ENST00000446217.1_Nonsense_Mutation_p.W967*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.W911*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGGAGCAGCTCCAGAGGCTGT	0.522000													25	61					0	0	0.006320	0	0
ESPL1	9700	broad.mit.edu	37	12	53670519	53670519	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr12:53670519A>G	ENST00000257934.4	+	8	1907	c.1816A>G	c.(1816-1818)Atc>Gtc	p.I606V	ESPL1_ENST00000552462.1_Missense_Mutation_p.I606V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	606					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACGCTTCAACATCATCTGTGA	0.662000													7	54					0	0	0.001984	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468534	72468534	+	Splice_Site	SNP	C	C	T	rs145552242		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:72468534C>T	ENST00000373208.1	+	4	870	c.870_splice	c.e4+1	p.I290_splice	ADAMTS14_ENST00000373207.1_Splice_Site_p.I290_splice	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	290	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCATGAATATCGTGAGTGTCC	0.602000													14	53					0	0	0.003163	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49376550	49376550	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:49376550C>T	ENST00000200453.5	+	2	329	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	20	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		ACCCTTTCTTCCTCCTGTCCC	0.612000													20	29					0	0	0.002299	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128864234	128864234	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr5:128864234C>T	ENST00000274487.4	+	6	1319	c.1174C>T	c.(1174-1176)Cat>Tat	p.H392Y	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	392	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TATTGGGCATCATGGAGAAAA	0.343000													13	27					0	0	0.003163	0	0
SLC41A3	54946	broad.mit.edu	37	3	125741705	125741705	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:125741705G>A	ENST00000383598.2	-	5	876	c.591C>T	c.(589-591)ccC>ccT	p.P197P	SLC41A3_ENST00000315891.6_Silent_p.P223P|SLC41A3_ENST00000360370.4_Silent_p.P223P|SLC41A3_ENST00000346785.5_Silent_p.P187P|SLC41A3_ENST00000508835.1_Silent_p.P106P	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	223						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TGGCTGCAATGGGCGTGGCAA	0.507000													48	182					0	0	0.003610	0	0
SYNE4	163183	broad.mit.edu	37	19	36499199	36499199	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:36499199C>T	ENST00000324444.3	-	2	310	c.199G>A	c.(199-201)Ggc>Agc	p.G67S	SYNE4_ENST00000340477.5_Missense_Mutation_p.G67S	NM_001039876.1	NP_001034965.1			spectrin repeat containing, nuclear envelope family member 4																		GGCTCATTGCCCCTTGGCCCA	0.657000													20	67					0	0	0.002299	0	0
EXOC6	54536	broad.mit.edu	37	10	94653221	94653221	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:94653221T>A	ENST00000371552.4	+	2	231	c.202T>A	c.(202-204)Ttt>Att	p.F68I	EXOC6_ENST00000371543.1_Missense_Mutation_p.F73I|EXOC6_ENST00000260762.6_Missense_Mutation_p.F73I|EXOC6_ENST00000443748.2_Missense_Mutation_p.F73I|EXOC6_ENST00000371547.4_Missense_Mutation_p.F89I	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	73					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TCATCAGGGTTTTGTAGATGC	0.323000													103	362					0	0	0.003610	0	0
MYO3A	53904	broad.mit.edu	37	10	26377306	26377306	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:26377306G>A	ENST00000265944.5	+	15	1700	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	MYO3A_ENST00000543632.1_Missense_Mutation_p.E512K	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	512	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATATCTCCTGGAAAAATCCCG	0.343000													10	25					0	0	0.001368	0	0
ADCY8	114	broad.mit.edu	37	8	131795943	131795943	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr8:131795943G>A	ENST00000286355.5	-	17	5354	c.3262C>T	c.(3262-3264)Cgg>Tgg	p.R1088W	ADCY8_ENST00000377928.3_Missense_Mutation_p.R957W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1088					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACCAATCCGGAGTTCAAAA	0.512000										HNSCC(32;0.087)			21	24					0	0	0.001882	0	0
TIAM2	26230	broad.mit.edu	37	6	155451385	155451385	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr6:155451385C>T	ENST00000461783.3	+	6	2301	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	TIAM2_ENST00000360366.4_Missense_Mutation_p.S343F|TIAM2_ENST00000529824.2_Missense_Mutation_p.S343F|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.S343F|TIAM2_ENST00000318981.5_Missense_Mutation_p.S343F			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	343					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GATGTGCCCTCCAGAGTGGCA	0.562000													27	32					0	0	0.008361	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029191	68029191	+	Silent	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr14:68029191C>T	ENST00000329153.5	+	7	975	c.843C>T	c.(841-843)tcC>tcT	p.S281S		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	281						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GTTCAGCTTCCTGGGGTGAGG	0.562000													6	20					0	0	0.001168	0	0
VPS72	6944	broad.mit.edu	37	1	151156850	151156850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:151156850G>A	ENST00000354473.4	-	4	541	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	169					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTTCCTCCTGGGTTAGTGGC	0.557000													39	171					0	0	0.007835	0	0
PAN3	255967	broad.mit.edu	37	13	28748517	28748517	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr13:28748517A>T	ENST00000399613.1	+	2	164	c.101A>T	c.(100-102)tAt>tTt	p.Y34F	PAN3_ENST00000380958.3_Missense_Mutation_p.Y180F			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	180	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GAAACAAAATATCCCCTGATG	0.373000													5	27					0	0	0.001168	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573337	38573337	+	Missense_Mutation	SNP	G	G	A	rs141105353		TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:38573337G>A	ENST00000222345.6	+	3	1641	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	378					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGCTTCCGCCGCCTCGGCCAT	0.682000													10	26					0	0	0.006214	0	0
SLC34A2	10568	broad.mit.edu	37	4	25673285	25673285	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr4:25673285G>A	ENST00000382051.3	+	9	1040	c.990G>A	c.(988-990)acG>acA	p.T330T	SLC34A2_ENST00000504570.1_Silent_p.T329T|SLC34A2_ENST00000503434.1_Silent_p.T329T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	330				T -> V (in Ref. 6; BAC11354).	cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.T330T(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCTGTTGGACGGATGGCATCC	0.502000			T	ROS1	NSCLC								64	128					0	0	0.003610	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45960014	45960014	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr21:45960014G>A	ENST00000400375.1	-	1	64	c.20C>T	c.(19-21)tCc>tTc	p.S7F	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	7						keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGAGCAGACGGACATGGTGGA	0.662000													19	56					0	0	0.008871	0	0
VPS54	51542	broad.mit.edu	37	2	64160857	64160857	+	Silent	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:64160857G>A	ENST00000354504.3	-	9	1819	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	VPS54_ENST00000409558.3_Silent_p.S551S|VPS54_ENST00000272322.4_Silent_p.S563S			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	563					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GCTCTTTGCTGGATGAAGAAT	0.418000													30	47					0	0	0.003755	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565009	58565009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:58565009C>T	ENST00000282326.1	+	6	1064	c.817C>T	c.(817-819)Caa>Taa	p.Q273*		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	273					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGGTGGTACCCAAGAGGCTGT	0.627000													12	65					0	0	0.002450	0	0
AADACL3	126767	broad.mit.edu	37	1	12785679	12785679	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr1:12785679G>A	ENST00000332530.3	+	3	785	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	AADACL3_ENST00000359318.5_Missense_Mutation_p.E257K	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	257							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTACTTGGAAGTAAGTGT	0.502000													34	111					0	0	0.003755	0	0
WBP1	23559	broad.mit.edu	37	2	74687550	74687550	+	Frame_Shift_Del	DEL	T	T	-	rs8469	byFrequency	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr2:74687550delT	ENST00000393972.3	+	5	857	c.654delT	c.(652-654)ccfs	p.P218fs	WBP1_ENST00000409737.1_Frame_Shift_Del_p.P181fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000233615.2_Frame_Shift_Del_p.P184fs			Q96G27	WBP1_HUMAN	WW domain binding protein 1	184							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GTGCCCCCCCTCATCAGGAGG	0.612													7	170	---	---	---	---					
ARMC8	25852	broad.mit.edu	37	3	137964016	137964016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr3:137964016delC	ENST00000469044.1	+	12	1396	c.1125delC	c.(1123-1125)atfs	p.I375fs	ARMC8_ENST00000489213.1_Frame_Shift_Del_p.I333fs|ARMC8_ENST00000393058.3_Frame_Shift_Del_p.I365fs|ARMC8_ENST00000485396.1_Frame_Shift_Del_p.I302fs|ARMC8_ENST00000481646.1_Frame_Shift_Del_p.I361fs|ARMC8_ENST00000471453.1_Frame_Shift_Del_p.I361fs|ARMC8_ENST00000358441.2_Frame_Shift_Del_p.I361fs|ARMC8_ENST00000538260.1_Frame_Shift_Del_p.I344fs|ARMC8_ENST00000461822.1_Frame_Shift_Del_p.I308fs|ARMC8_ENST00000491704.1_Frame_Shift_Del_p.I333fs|ARMC8_ENST00000470821.1_Frame_Shift_Del_p.I375fs	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	375							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ATGAAGACATCCGGAAGAAGG	0.517													169	394	---	---	---	---					
RBAK	57786	broad.mit.edu	37	7	5104669	5104669	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr7:5104669delG	ENST00000396912.1	+	5	2101	c.1582delG	c.(1582-1584)ggfs	p.G528fs	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Frame_Shift_Del_p.G528fs|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	528	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGCCTTCGATGGGCACCAGCC	0.383													27	59	---	---	---	---					
UPF2	26019	broad.mit.edu	37	10	11990430	11990432	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr10:11990430_11990432delCTT	ENST00000356352.2	-	15	3583_3585	c.3110_3112delAAG	c.(3109-3114)ggt>g	p.EG1037del	UPF2_ENST00000357604.5_In_Frame_Del_p.EG1037del|UPF2_ENST00000397053.2_In_Frame_Del_p.EG1037del			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1037	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				tcagccccaccttcttcttcttc	0.374													10	604	---	---	---	---					
ZNF155	7711	broad.mit.edu	37	19	44500692	44500711	+	Frame_Shift_Del	DEL	GAGAGAAACCATTCAAATGT	GAGAGAAACCATTCAAATGT	-	rs143866640	byFrequency	TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chr19:44500692_44500711delGAGAGAAACCATTCAAATGT	ENST00000270014.2	+	5	811_830	c.683_702delGAGAGAAACCATTCAAATGT	c.(682-702)gfs	p.GEKPFKC228fs	ZNF155_ENST00000407951.2_Frame_Shift_Del_p.GEKPFKC239fs|ZNF155_ENST00000590615.1_Frame_Shift_Del_p.GEKPFKC228fs	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	228						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GTCCACACTGGAGAGAAACCATTCAAATGTGAGCAATGTG	0.436													26	98	---	---	---	---					
ERAS	3266	broad.mit.edu	37	X	48688189	48688189	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A2JA-06A-11D-A196-08	TCGA-D3-A2JA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f961ddcc-fb01-4ad1-974e-ccb2656a328e	a6cc66c4-23a1-43c8-9989-be2c10aa4f63	g.chrX:48688189delC	ENST00000338270.1	+	1	907	c.656delC	c.(655-657)acfs	p.T219fs		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	219					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						AGGGAGAAGACCCGGCACCAG	0.592													2	4	---	---	---	---