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
CCT2	10576	broad.mit.edu	37	12	69993770	69993770	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:69993770C>T	ENST00000543146.2	+	15	1904	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	CCT2_ENST00000299300.6_Silent_p.I521I|CCT2_ENST00000544368.2_Intron	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	521					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ACAACATCATCAAAGCGGCAC	0.398000													8	19					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278720	50278720	+	Silent	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:50278720C>A	ENST00000442544.2	+	2	1004	c.388C>A	c.(388-390)Cgg>Agg	p.R130R	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	130	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AATTATTAGTCGGACAGCAAA	0.423000													11	36					0.00010058	0.000105258	1	1	0
PCLO	27445	broad.mit.edu	37	7	82581589	82581589	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:82581589C>G	ENST00000423517.2	-	5	9017	c.8680G>C	c.(8680-8682)Gat>Cat	p.D2894H	PCLO_ENST00000333891.8_Missense_Mutation_p.D2894H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2825					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						ACTTCCCCATCAGTGATTCCC	0.443000													18	44					0	0	1	0	0
PSMC3	5702	broad.mit.edu	37	11	47446705	47446705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:47446705C>G	ENST00000298852.3	-	3	409	c.252G>C	c.(250-252)aaG>aaC	p.K84N	PSMC3_ENST00000602866.1_Missense_Mutation_p.K68N|PSMC3_ENST00000530912.1_Intron	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	84					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACGGCAGGGTCTTGTTCACTT	0.512000													10	48					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70961694	70961694	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:70961694C>G	ENST00000322954.6	-	16	1514	c.1329G>C	c.(1327-1329)aaG>aaC	p.K443N	UACA_ENST00000560441.1_Missense_Mutation_p.K428N|UACA_ENST00000379983.2_Missense_Mutation_p.K430N|UACA_ENST00000539319.1_Missense_Mutation_p.K334N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	443						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTAACTCTTTCTTTAAAATTT	0.413000													14	41					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390563	197390563	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:197390563G>A	ENST00000367400.3	+	6	1740	c.1605G>A	c.(1603-1605)ctG>ctA	p.L535L	CRB1_ENST00000538660.1_Silent_p.L535L|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.L423L|CRB1_ENST00000543483.1_Silent_p.L234L|CRB1_ENST00000535699.1_Silent_p.L466L|CRB1_ENST00000544212.1_Silent_p.L16L|CRB1_ENST00000476483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	535	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGTGAAGCTGGAGCTGCTAA	0.458000													16	43					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237827	56237827	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:56237827G>C	ENST00000312240.2	-	1	187	c.147C>G	c.(145-147)gtC>gtG	p.V49V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GCTGAGGACTGACCTTGATTA	0.438000													13	51					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124998092	124998092	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:124998092C>A	ENST00000360647.4	-	6	945		c.e6-1		ZNF148_ENST00000484491.1_Splice_Site|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Splice_Site|ZNF148_ENST00000497929.1_Splice_Site|ZNF148_ENST00000492394.1_Splice_Site|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148						cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTGTAAGGATCTAGTTCAAAA	0.308000													4	25					3.59834e-05	3.80503e-05	1	1	0
ZNF248	57209	broad.mit.edu	37	10	38121522	38121522	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:38121522C>T	ENST00000395867.3	-	6	1311	c.761G>A	c.(760-762)aGt>aAt	p.S254N	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.S254N|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CAGCTTTAAACTTTCAATGAA	0.383000													6	25					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131925848	131925848	+	Silent	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:131925848A>G	ENST00000359827.3	-	5	2543	c.1581T>C	c.(1579-1581)tgT>tgC	p.C527C	PLXNA4_ENST00000321063.4_Silent_p.C527C			Q9HCM2	PLXA4_HUMAN	plexin A4	527	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACACCAGCCACAGTGGGGGT	0.592000													8	15					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248853	75248853	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:75248853C>A	ENST00000325680.7	+	4	2231	c.2107C>A	c.(2107-2109)Cct>Act	p.P703T	YLPM1_ENST00000238571.3_Missense_Mutation_p.P508T|YLPM1_ENST00000552421.1_Missense_Mutation_p.P703T	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTCAAAAGCTCCTTTGAGCAA	0.488000													13	47					0.0931896	0.0943544	1	1	0
SOCS3	9021	broad.mit.edu	37	17	76354722	76354722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:76354722G>A	ENST00000330871.2	-	2	870	c.455C>T	c.(454-456)tCt>tTt	p.S152F		NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	152					anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			TGGCTGGGCAGACGGCTGCTC	0.662000													11	25					0	0	1	0	0
LRRC71	149499	broad.mit.edu	37	1	156901815	156901815	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:156901815C>T	ENST00000337428.7	+	13	1591	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	479										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						ACCTCAACCTCATCCGTATGT	0.577000													4	6					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89180146	89180146	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:89180146C>T	ENST00000286614.6	-	4	742	c.461G>A	c.(460-462)cGt>cAt	p.R154H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	154					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATCAAAGGCACGGCGAATAGC	0.368000													4	18					0	0	1	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70523745	70523745	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:70523745A>C	ENST00000538820.1	+	7	909	c.569A>C	c.(568-570)cAt>cCt	p.H190P	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.H208P|ITGB1BP2_ENST00000465388.1_3'UTR			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	208	CHORD 2.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GTCGGTAGACATGACTGGGGG	0.502000													10	15					0	0	1	0	0
FAM175A	84142	broad.mit.edu	37	4	84391361	84391361	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:84391361T>G	ENST00000321945.7	-	5	579	c.471A>C	c.(469-471)caA>caC	p.Q157H	FAM175A_ENST00000506553.1_Missense_Mutation_p.Q108H|FAM175A_ENST00000505489.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	157					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TTTACCCTTTTTGAGGTTTAT	0.318000													7	29					0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53554913	53554913	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:53554913C>G	ENST00000267085.4	-	12	1196	c.963G>C	c.(961-963)caG>caC	p.Q321H	CSAD_ENST00000379846.1_Missense_Mutation_p.Q147H|CSAD_ENST00000379843.3_Missense_Mutation_p.Q147H|CSAD_ENST00000444623.1_Missense_Mutation_p.Q294H|CSAD_ENST00000453446.2_Missense_Mutation_p.Q294H	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	294					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GTATGCACCTCTGGATCCCAT	0.577000													5	15					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28250520	28250520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:28250520G>A	ENST00000305242.5	-	10	1455	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	ARMC4_ENST00000239715.3_Nonsense_Mutation_p.Q312*|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.Q147*|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	455							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACCAGCTTCTGAATTTGCCAA	0.388000													7	18					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110507164	110507164	+	Translation_Start_Site	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:110507164T>C	ENST00000324068.1	-	2	168	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	1					microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GGAGGACCCATAGTGTTGAAC	0.408000													41	52					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55360337	55360337	+	Silent	SNP	C	C	T	rs139857215	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:55360337C>T	ENST00000290552.7	+	2	1467	c.135C>T	c.(133-135)ccC>ccT	p.P45P	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	45						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCCCAGCGCCCGCTCTCTGCT	0.637000													10	35					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121461593	121461593	+	Missense_Mutation	SNP	G	G	C	rs2282647	by1000genomes	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:121461593G>C	ENST00000527934.1	+	1	466	c.45G>C	c.(43-45)tgG>tgC	p.W15C	SORL1_ENST00000260197.7_Intron|SORL1_ENST00000532694.1_Intron|SORL1_ENST00000525532.1_Intron|SORL1_ENST00000534286.1_Intron			Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1216					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCAGTCACTGGCCTCCCTCAG	0.463000											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	69					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74957842	74957842	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:74957842G>C	ENST00000262144.6	-	9	841	c.711C>G	c.(709-711)gtC>gtG	p.V237V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	237										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TGGCCTTCCAGACAGGCACCT	0.463000													4	9					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183059382	183059382	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:183059382G>A	ENST00000328913.3	-	4	609	c.312C>T	c.(310-312)atC>atT	p.I104I	MCF2L2_ENST00000447025.2_Silent_p.I104I|MCF2L2_ENST00000473233.1_Silent_p.I104I|MCF2L2_ENST00000414362.2_Silent_p.I104I	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	104	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTCGTCTGTCGATAACAACAA	0.423000													8	23					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24737595	24737595	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:24737595C>T	ENST00000399409.3	-	10	1521	c.1038G>A	c.(1036-1038)acG>acA	p.T346T	RABGGTA_ENST00000216840.6_Silent_p.T346T|RABGGTA_ENST00000560777.1_Intron	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	346					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCTCGTCTGTCGTGGAGTCCC	0.622000													13	53					0	0	1	0	0
PGRMC1	10857	broad.mit.edu	37	X	118370343	118370343	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:118370343T>C	ENST00000217971.7	+	1	128	c.17T>C	c.(16-18)gTg>gCg	p.V6A	PGRMC1_ENST00000535419.1_Missense_Mutation_p.V6A	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	6						cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						GCCGAGGATGTGGTGGCGACT	0.637000													18	29					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17264575	17264575	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:17264575C>A	ENST00000331428.5	-	4	1416	c.1314G>T	c.(1312-1314)agG>agT	p.R438S		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	438						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GACAGTAATTCCTCAGCTGCT	0.348000													6	4					3.59834e-05	3.80503e-05	1	1	0
SPAG8	26206	broad.mit.edu	37	9	35810898	35810898	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:35810898C>T	ENST00000340291.2	-	3	1145	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	SPAG8_ENST00000484764.1_Missense_Mutation_p.V339I|SPAG8_ENST00000396638.2_Missense_Mutation_p.V341I|SPAG8_ENST00000479751.1_5'UTR	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	341						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCAATAGACGTTTCCTGGT	0.542000													13	63					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41276075	41276075	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:41276075G>A	ENST00000361937.3	-	34	4546	c.4122C>T	c.(4120-4122)gaC>gaT	p.D1374D	INO80_ENST00000401393.3_Silent_p.D1374D			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1374	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCTGCTCTCGTCCAGGGGAA	0.572000													8	39					0	0	1	0	0
LRRC73	221424	broad.mit.edu	37	6	43475269	43475269	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:43475269C>T	ENST00000372441.1	-	5	1705	c.805G>A	c.(805-807)Gac>Aac	p.D269N		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	269																	TCCTGGGTGTCGCCAGCCCCT	0.617000													10	34					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851824	43851824	+	Silent	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:43851824A>G	ENST00000372769.3	+	2	1641	c.1551A>G	c.(1549-1551)caA>caG	p.Q517Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	517	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ATCAAGATCAATGGTCTGGCC	0.403000													11	24					0	0	1	0	0
MARCKSL1	65108	broad.mit.edu	37	1	32800238	32800238	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:32800238T>A	ENST00000329421.7	-	2	893	c.548A>T	c.(547-549)gAg>gTg	p.E183V		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	183						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGGCCACTCTCCGGCCCCGA	0.617000													17	42					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042146	73042146	+	RNA	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:73042146G>C	ENST00000604411.1	+	0	30107				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GTAGTGGCCAGAGTGGTAGAA	0.413000													6	12					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487352	31487352	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:31487352G>A	ENST00000394863.3	+	8	864	c.734G>A	c.(733-735)cGc>cAc	p.R245H	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.R228H|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.R228H|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.R228H	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	245	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCTCTGGGCCGCGCCTGGCAC	0.652000													12	60					0	0	1	0	0
DNAJB5	25822	broad.mit.edu	37	9	34996641	34996641	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:34996641C>G	ENST00000541010.1	+	2	3603	c.591C>G	c.(589-591)ctC>ctG	p.L197L	DNAJB5_ENST00000545841.1_Silent_p.L197L|DNAJB5_ENST00000312316.5_Silent_p.L197L|DNAJB5_ENST00000335998.3_Silent_p.L231L|DNAJB5_ENST00000453597.3_Silent_p.L311L|DNAJB5_ENST00000454002.2_Silent_p.L269L			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	197					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGCGTCGCCTCAACCCTGATG	0.592000													7	40					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79611333	79611333	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:79611333G>A	ENST00000261205.4	+	4	691	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	SYT1_ENST00000457153.2_Missense_Mutation_p.A12T|SYT1_ENST00000393240.3_Missense_Mutation_p.A12T|SYT1_ENST00000552744.1_Missense_Mutation_p.A12T	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	12					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GGCCCTGGCAGCCCCGCCTGT	0.532000													6	20					0	0	1	0	0
TYMS	7298	broad.mit.edu	37	18	670729	670729	+	Silent	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:670729C>A	ENST00000323274.10	+	5	733	c.594C>A	c.(592-594)ctC>ctA	p.L198L	TYMS_ENST00000323224.7_Silent_p.L164L|TYMS_ENST00000323250.5_Silent_p.L115L|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	198					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	p.L198L(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	GCCATGCCCTCTGCCAGTTCT	0.557000													21	64					2.89027e-11	3.18953e-11	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65270397	65270397	+	RNA	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:65270397G>T	ENST00000534336.1	+	0	5165					NR_002819.2																						ATGAATTGATGAGAAATACAA	0.289000													2	1					0.0016	0.00166581	1	1	0
GLRA4	441509	broad.mit.edu	37	X	102978844	102978844	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:102978844G>A	ENST00000372617.4	-	5	937	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	173						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGGTCCATCAGGCAGGACAAA	0.527000													36	29					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47225314	47225314	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:47225314G>C	ENST00000391910.3	-	16	2492	c.2042C>G	c.(2041-2043)tCc>tGc	p.S681C	STRN4_ENST00000539396.1_Missense_Mutation_p.S555C|STRN4_ENST00000263280.6_Missense_Mutation_p.S674C			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	674						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGCAACCATGGAGTGCACCGG	0.617000													11	36					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39329240	39329240	+	Splice_Site	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:39329240T>C	ENST00000221419.5	-	10	1722		c.e10-2		AC104534.3_ENST00000594769.1_Splice_Site|HNRNPL_ENST00000600873.1_Splice_Site	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L						nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTGGAGACACTGCAGCAAGGA	0.542000													6	12					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	433424	433424	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:433424G>C	ENST00000332826.6	-	4	324	c.240C>G	c.(238-240)atC>atG	p.I80M		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	80						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGTCAGCACGGATCCCAAAGA	0.642000													23	53					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975852	76975852	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:76975852G>A	ENST00000409911.1	-	3	1968	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	LRRTM4_ENST00000409093.1_Missense_Mutation_p.P581L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P581L	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	581						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTAGATGGCCGGTGCTGCCGA	0.592000													31	70					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38027760	38027760	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:38027760G>C	ENST00000377940.3	+	3	361	c.222G>C	c.(220-222)gtG>gtC	p.V74V	ZPBP2_ENST00000348931.4_Silent_p.V96V|ZPBP2_ENST00000584588.1_Silent_p.V96V	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	96					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCTGATGGTGAAAGATTTTT	0.284000													9	26					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169496746	169496746	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:169496746C>G	ENST00000349841.5	+	3	1120	c.457C>G	c.(457-459)Cga>Gga	p.R153G	MYNN_ENST00000392733.1_Missense_Mutation_p.R153G|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.R153G|MYNN_ENST00000356716.4_Missense_Mutation_p.R153G	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	153						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTATAATAATCGAGAGAAATC	0.343000													7	16					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816280	82816280	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:82816280G>C	ENST00000265077.3	+	7	2720	c.2155G>C	c.(2155-2157)Gaa>Caa	p.E719Q	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E671Q|VCAN_ENST00000342785.4_Missense_Mutation_p.E719Q|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	719	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACAGAAGAAGAAGTCTTCTC	0.363000													8	14					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88534203	88534203	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:88534203G>C	ENST00000399271.1	+	4	985	c.865G>C	c.(865-867)Gat>Cat	p.D289H	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.D289H	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	289					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.D289Y(2)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGGAAAGAAGATGATCATGA	0.428000													14	23					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107253	168107253	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:168107253C>T	ENST00000409195.1	+	9	9440	c.9351C>T	c.(9349-9351)cgC>cgT	p.R3117R	XIRP2_ENST00000409273.1_Silent_p.R2895R|XIRP2_ENST00000295237.9_Silent_p.R3117R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2942					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAAACACGCCCACCGTCAC	0.428000													15	45					0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67358682	67358682	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:67358682T>A	ENST00000327367.4	+	1	500	c.190T>A	c.(190-192)Tgc>Agc	p.C64S		NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	64	MH1.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CAACACCAAGTGCATCACCAT	0.682000													8	10					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23451169	23451169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:23451169G>A	ENST00000262713.2	-	1	682	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q103*|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	103	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										GGCAACGACTGAGGTAGAGGC	0.706000													4	14					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498655	118498655	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:118498655C>T	ENST00000361417.2	+	7	1527	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	PHLDB1_ENST00000356063.5_Silent_p.L372L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	372										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGGTGCTCTCAGTCAACCCA	0.637000													20	50					0	0	1	0	0
IGLV7-43	28776	broad.mit.edu	37	22	22749559	22749559	+	RNA	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:22749559C>T	ENST00000390298.2	+	0	117																											CAGGAGCCCTCACTGACTGTG	0.507000													6	29					0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97278423	97278423	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:97278423G>A	ENST00000236228.6	+	12	1409	c.1327G>A	c.(1327-1329)Gga>Aga	p.G443R	PTBP2_ENST00000370197.1_Missense_Mutation_p.G448R|PTBP2_ENST00000426398.2_Missense_Mutation_p.G443R|PTBP2_ENST00000370198.1_Missense_Mutation_p.G448R|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.G459R	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	443							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TAAGAAACCTGGATCCAAAAA	0.378000													7	16					0	0	1	0	0
EPHX4	253152	broad.mit.edu	37	1	92515905	92515905	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:92515905G>A	ENST00000370383.4	+	5	734	c.636G>A	c.(634-636)ttG>ttA	p.L212L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	212						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						CTCAGCTGTTGAAATCCAGTT	0.318000													4	25					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93151411	93151411	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:93151411G>A	ENST00000216487.7	+	9	2706	c.2547G>A	c.(2545-2547)ctG>ctA	p.L849L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	849					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCCGGCAGCTGAGTGTGGAGG	0.637000													19	61					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58021630	58021630	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:58021630C>T	ENST00000341156.4	-	10	1739	c.1155G>A	c.(1153-1155)gcG>gcA	p.A385A	B4GALNT1_ENST00000418555.2_Silent_p.A330A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	385					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.A385A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCTCGCGCACCGCGCCCCCCA	0.711000													3	8					0	0	1	0	0
C11orf1	64776	broad.mit.edu	37	11	111754583	111754583	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:111754583G>A	ENST00000260276.3	+	4	769	c.432G>A	c.(430-432)atG>atA	p.M144I	C11orf1_ENST00000530214.1_Silent_p.*122*|C11orf1_ENST00000529270.1_Missense_Mutation_p.M184I|C11orf1_ENST00000528125.1_Missense_Mutation_p.M98I	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	144						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		CAACTTACATGAATAGCTATT	0.398000													10	30					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64415949	64415949	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:64415949C>G	ENST00000262043.3	+	12	3738	c.3398C>G	c.(3397-3399)tCt>tGt	p.S1133C	PHF3_ENST00000393387.1_Missense_Mutation_p.S1133C			Q92576	PHF3_HUMAN	PHD finger protein 3	1133					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GATGATCTTTCTCCAAAAAAA	0.353000													9	10					0	0	1	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146360	10146360	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:10146360G>C	ENST00000450660.2	-	2	315	c.99C>G	c.(97-99)ttC>ttG	p.F33L	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.F33L	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		GGGAGGCCTTGAATGGGTGCT	0.562000													18	59					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350536	100350536	+	RNA	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:100350536C>T	ENST00000542585.1	+	0	2956				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGACTACCATCTCCACAGAAA	0.507000													25	74					0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301870	139301870	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:139301870G>A	ENST00000298537.7	-	4	688	c.477C>T	c.(475-477)acC>acT	p.T159T	SDCCAG3_ENST00000371725.3_Silent_p.T109T|SDCCAG3_ENST00000357365.3_Silent_p.T182T	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	182						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CACTCCATCCGGTGTCCTCAT	0.622000													7	20					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12262600	12262600	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:12262600C>T	ENST00000256194.4	+	18	2516	c.2228C>T	c.(2227-2229)tCa>tTa	p.S743L	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.S743L|MICAL2_ENST00000527546.1_Intron	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	743						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CGCCGTGTCTCAGGGATAGGT	0.582000													19	69					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21867787	21867787	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:21867787G>A	ENST00000399982.2	-	25	4959	c.4895C>T	c.(4894-4896)tCg>tTg	p.S1632L	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.S1632L|CHD8_ENST00000430710.3_Missense_Mutation_p.S1353L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1632					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.S1632L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATGAGCAGCGACTTGTCAGC	0.438000													12	37					0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24790551	24790551	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:24790551C>T	ENST00000003912.3	+	12	1431	c.716C>T	c.(715-717)aCg>aTg	p.T239M	NIPAL3_ENST00000339255.2_Missense_Mutation_p.T321M|NIPAL3_ENST00000374399.4_Missense_Mutation_p.T321M			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	321						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TTCTTAATCACGCGTAACAGG	0.488000													4	12					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52606036	52606036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:52606036G>A	ENST00000399231.3	-	41	5668	c.5425C>T	c.(5425-5427)Cga>Tga	p.R1809*	MYO5A_ENST00000553916.1_Nonsense_Mutation_p.R1807*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.R1782*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.R1834*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.R1806*	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1809	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTCCTGTCTCGTAAACGCATC	0.393000													15	30					0	0	1	0	0
RNASE4	6038	broad.mit.edu	37	14	21167607	21167607	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:21167607C>G	ENST00000555835.1	+	2	753	c.77C>G	c.(76-78)tCc>tGc	p.S26C	RNASE4_ENST00000397995.2_Missense_Mutation_p.S26C|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555597.1_Missense_Mutation_p.S26C|RNASE4_ENST00000304704.4_Missense_Mutation_p.S26C|AL163636.6_ENST00000553909.1_RNA	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	26					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GTCCAGCCCTCCTATGGCCAG	0.557000													76	81					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	58652626	58652626	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:58652626G>A	ENST00000405755.2	-	1	175	c.47C>T	c.(46-48)tCt>tTt	p.S16F	PDE4D_ENST00000507116.1_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Intron|PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000360047.5_Intron|PDE4D_ENST00000546160.1_Intron	NM_001197219.1	NP_001184148.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GGCTCTTGTAGATGGTCCTGG	0.478000													3	12					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103260425	103260425	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:103260425A>C	ENST00000553106.1	-	5	930	c.458T>G	c.(457-459)gTg>gGg	p.V153G	PAH_ENST00000551988.1_Intron|PAH_ENST00000307000.2_Missense_Mutation_p.V148G	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	153					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGCACGGTACACAGGATCTTT	0.468000													6	37					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76028613	76028613	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:76028613C>T	ENST00000319211.4	+	2	828	c.563C>T	c.(562-564)gCc>gTc	p.A188V		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	188					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AACATGTACGCCTCTATCTTG	0.493000													48	90					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32386188	32386188	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:32386188G>T	ENST00000283365.9	+	6	719	c.368G>T	c.(367-369)gGc>gTc	p.G123V	DTNA_ENST00000444659.1_Missense_Mutation_p.G123V|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.G123V|DTNA_ENST00000598334.1_Missense_Mutation_p.G123V|DTNA_ENST00000269191.6_Missense_Mutation_p.G123V|DTNA_ENST00000399113.3_Missense_Mutation_p.G123V|DTNA_ENST00000595022.1_Missense_Mutation_p.G123V|DTNA_ENST00000269190.7_Missense_Mutation_p.G123V|DTNA_ENST00000596745.1_Missense_Mutation_p.G123V|DTNA_ENST00000598774.1_Missense_Mutation_p.G123V|DTNA_ENST00000598142.1_Missense_Mutation_p.G123V|DTNA_ENST00000315456.6_Missense_Mutation_p.G123V|DTNA_ENST00000399121.5_Missense_Mutation_p.G123V|DTNA_ENST00000597599.1_Missense_Mutation_p.G123V|DTNA_ENST00000348997.5_Missense_Mutation_p.G123V	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	123	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AACAGGGAAGGCCATGGTAAA	0.338000													4	15					0.150653	0.151401	1	1	0
TSHB	7252	broad.mit.edu	37	1	115576668	115576668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:115576668C>A	ENST00000256592.1	+	3	305	c.237C>A	c.(235-237)taC>taA	p.Y79*	TSHB_ENST00000369517.1_Nonsense_Mutation_p.Y79*	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	79					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ACTTCATCTACAGGACTGTAG	0.423000													31	51					1.55811e-20	1.76267e-20	1	1	0
SSTR1	6751	broad.mit.edu	37	14	38679099	38679099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:38679099C>T	ENST00000267377.2	+	3	1122	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	169					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GGCCCGCTACCGCCGGCCCAC	0.637000													18	94					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58133998	58133998	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:58133998G>A	ENST00000357272.4	+	35	5959	c.5794G>A	c.(5794-5796)Gag>Aag	p.E1932K	FLNB_ENST00000348383.5_Missense_Mutation_p.E1932K|FLNB_ENST00000419752.2_Missense_Mutation_p.E1752K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1932K|FLNB_ENST00000493452.1_Missense_Mutation_p.E1739K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1963K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1921K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1908K			O75369	FLNB_HUMAN	filamin B, beta	1932	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGACATCAGTGAGACTGACCT	0.587000													9	16					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95484948	95484948	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:95484948C>G	ENST00000356884.6	-	3	663	c.596G>C	c.(595-597)aGa>aCa	p.R199T	BICD2_ENST00000375512.3_Missense_Mutation_p.R199T	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	199					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGGTTCTGTCTGAGCACAGA	0.577000													17	18					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415996	10415996	+	Splice_Site	SNP	A	A	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:10415996A>T	ENST00000226207.5	-	11	1103		c.e11+1		CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult							muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTATAACTTACATCTGTAGC	0.393000													17	72					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103827017	103827017	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:103827017G>A	ENST00000299238.5	+	1	1871	c.1786G>A	c.(1786-1788)Ggg>Agg	p.G596R		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	596						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCCGGGCTGGGGGGCAGGGGG	0.677000									Hermansky-Pudlak syndrome				11	29					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139108558	139108558	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:139108558C>T	ENST00000358701.5	-	9	1134	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	366					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)		TGGCGGCCGTCCAGGGAACAG	0.647000													12	53					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738058	102738058	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:102738058G>A	ENST00000210633.3	+	5	520	c.442G>A	c.(442-444)Gag>Aag	p.E148K	SEMA4G_ENST00000517724.1_Missense_Mutation_p.E148K|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E148K|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000519756.1_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	148	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTAGGATGCTGAGGCCTTCAC	0.562000													6	15					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	30075261	30075261	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:30075261A>G	ENST00000431530.3	+	13	3914	c.3856A>G	c.(3856-3858)Aag>Gag	p.K1286E	MTUS2_ENST00000542829.1_Missense_Mutation_p.K165E|MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000380808.2_Missense_Mutation_p.K255E	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1276						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTAGAAGAAAAGATCCAGGT	0.463000													5	27					0	0	1	0	0
EIF2S2	8894	broad.mit.edu	37	20	32677565	32677565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:32677565G>A	ENST00000374980.2	-	9	1194	c.973C>T	c.(973-975)Cga>Tga	p.R325*		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	325						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						AGCTGTGCTCGCTTGCCCGTG	0.478000													9	29					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28228044	28228044	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:28228044G>A	ENST00000343684.3	+	1	947	c.895G>A	c.(895-897)Gct>Act	p.A299T		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	299										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTATGGCCATGCTTTGCTTCC	0.453000													13	44					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30695463	30695463	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:30695463C>T	ENST00000215790.7	-	3	551	c.387G>A	c.(385-387)gtG>gtA	p.V129V	RP1-130H16.18_ENST00000447976.1_Silent_p.V3V|TBC1D10A_ENST00000403362.1_Silent_p.V41V|TBC1D10A_ENST00000403477.3_Silent_p.V136V	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	129	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCTGTAACTTCACCTTGCCTC	0.562000													10	40					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66361138	66361138	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:66361138C>G	ENST00000273854.3	-	4	1634	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T	EPHA5_ENST00000511294.1_Missense_Mutation_p.R345T|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.R345T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	345	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCAGACTCTCTCCTGAAATA	0.473000										TSP Lung(17;0.13)			20	73					0	0	1	0	0
FBXO48	554251	broad.mit.edu	37	2	68691500	68691500	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:68691500C>T	ENST00000377957.2	-	4	716	c.309G>A	c.(307-309)gtG>gtA	p.V103V		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	103										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TCAGCAGTATCACCTGAAAGA	0.393000													8	30					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784622	32784622	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:32784622G>T	ENST00000342743.5	+	2	806	c.441G>T	c.(439-441)caG>caT	p.Q147H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	147						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GAGAATGCCAGAGCCTCGTCC	0.632000													5	30					0.014758	0.0150934	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77629732	77629732	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:77629732C>G	ENST00000407578.2	-	80	13874	c.13608G>C	c.(13606-13608)atG>atC	p.M4536I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.M4498I|MYCBP2_ENST00000544440.2_Missense_Mutation_p.M4498I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CATATCTATTCATTGCATAGC	0.343000													3	15					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76982353	76982353	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:76982353C>G	ENST00000315938.4	-	5	543	c.293G>C	c.(292-294)gGg>gCg	p.G98A	GDPD4_ENST00000376217.2_Missense_Mutation_p.G98A	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	98					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CATTGACAGCCCAGCTACCAG	0.433000													9	40					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57973370	57973370	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:57973370C>T	ENST00000564448.1	-	16	1378	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	CNGB1_ENST00000251102.8_Missense_Mutation_p.E446K|CNGB1_ENST00000564654.1_5'UTR			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	446					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCTCAGGctcctccttggtc	0.617000													5	31					0	0	1	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35579122	35579122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:35579122G>T	ENST00000261475.5	-	4	660	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	PPP2R3C_ENST00000555644.1_Missense_Mutation_p.L103M	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	103						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)		TGTTTGTCCAGCAAAAACCAT	0.358000													11	63					1.08611e-07	1.17929e-07	1	1	0
MCF2L	23263	broad.mit.edu	37	13	113742891	113742891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:113742891G>A	ENST00000397030.1	+	25	2919	c.2882G>A	c.(2881-2883)cGg>cAg	p.R961Q	MCF2L_ENST00000375601.3_Missense_Mutation_p.R932Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R985Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R928Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R958Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R932Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R926Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.R958Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R934Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.R926Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	958					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCCAGCACCGGGCGCTGGAG	0.657000													4	14					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6718272	6718272	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:6718272G>C	ENST00000245907.6	-	3	511	c.419C>G	c.(418-420)aCc>aGc	p.T140S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	140					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGAGCCAGGGGTGTAGATGGT	0.652000													8	24					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101605686	101605686	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:101605686G>C	ENST00000284395.5	+	33	5435	c.5035G>C	c.(5035-5037)Gcg>Ccg	p.A1679P	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.A1682P|LRRK1_ENST00000532145.1_3'UTR			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1682					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A1682T(1)|p.A1694T(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTTCAGCATCGCGGATGAAGA	0.612000													19	73					0	0	1	0	0
TRAV40	28641	broad.mit.edu	37	14	22783229	22783229	+	RNA	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:22783229G>A	ENST00000390467.3	+	0	195																											AGCTTCTTCAGAGAGAGACAA	0.463000													39	40					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886327	119886327	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:119886327G>C	ENST00000464295.1	-	10	2442	c.1997C>G	c.(1996-1998)tCa>tGa	p.S666*	GPR156_ENST00000315843.3_Nonsense_Mutation_p.S666*|GPR156_ENST00000461057.1_Nonsense_Mutation_p.S662*			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	666						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TTGAGGATCTGAAGGTAGTGA	0.567000													6	40					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110086442	110086442	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:110086442C>T	ENST00000527748.1	+	2	1481	c.798C>T	c.(796-798)gtC>gtT	p.V266V	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	266						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCACGATGGTCACCAGCTCGG	0.677000													19	59					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248748	75248748	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:75248748C>G	ENST00000325680.7	+	4	2126	c.2002C>G	c.(2002-2004)Cca>Gca	p.P668A	YLPM1_ENST00000238571.3_Missense_Mutation_p.P473A|YLPM1_ENST00000552421.1_Missense_Mutation_p.P668A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAAACCTAGACCAGCACTGCT	0.522000													11	47					0	0	1	0	0
TBKBP1	9755	broad.mit.edu	37	17	45776755	45776755	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:45776755C>A	ENST00000361722.3	+	5	1553	c.704C>A	c.(703-705)gCc>gAc	p.A235D		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	235					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GCTTTGGAGGCCGCGCAGGGA	0.711000											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	10					1	1	1	1	0
SORBS2	8470	broad.mit.edu	37	4	186544294	186544294	+	Silent	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:186544294G>T	ENST00000431808.1	-	14	2840	c.2277C>A	c.(2275-2277)cgC>cgA	p.R759R	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Silent_p.R859R|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.R759R|SORBS2_ENST00000418609.1_Silent_p.R663R|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	759						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CACTGATGAGGCGGTGCAGGA	0.572000													46	132					1.86277e-20	2.10145e-20	1	1	0
KIF16B	55614	broad.mit.edu	37	20	16493547	16493547	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:16493547G>A	ENST00000354981.2	-	5	527	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	KIF16B_ENST00000408042.1_Missense_Mutation_p.R124W|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R124W	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	124	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCACAGATCCGAGGTATTAAG	0.458000													4	20					0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242283205	242283205	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:242283205G>T	ENST00000391973.2	+	9	1263	c.735G>T	c.(733-735)ttG>ttT	p.L245F	SEPT2_ENST00000407971.1_Missense_Mutation_p.L205F|SEPT2_ENST00000401990.1_Missense_Mutation_p.L255F|SEPT2_ENST00000391971.2_Missense_Mutation_p.L245F|SEPT2_ENST00000402092.2_Missense_Mutation_p.L245F|SEPT2_ENST00000360051.3_Missense_Mutation_p.L245F	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	245					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CCAATCAGTTGATTGAAGCCA	0.517000													56	144					3.85841e-42	4.38949e-42	1	1	0
SEMA3G	56920	broad.mit.edu	37	3	52474988	52474988	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:52474988G>A	ENST00000231721.2	-	8	889	c.890C>T	c.(889-891)cCc>cTc	p.P297L		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	297	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACCAGGGCCGGGCACCGAGCA	0.642000													13	25					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	475148	475148	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:475148G>A	ENST00000264938.3	-	16	2360	c.2351C>T	c.(2350-2352)tCg>tTg	p.S784L	SLC9A3_ENST00000514375.1_Missense_Mutation_p.S775L|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	784						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCCCTCTGCGAGGGGACCAC	0.672000													6	19					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103359282	103359282	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:103359282C>T	ENST00000520539.1	-	6	1031	c.425G>A	c.(424-426)gGa>gAa	p.G142E	UBR5_ENST00000521922.1_Missense_Mutation_p.G142E|UBR5_ENST00000220959.4_Missense_Mutation_p.G142E	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	142					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACCAGAGGATCCTCCACCACT	0.488000													36	99					0	0	1	0	0
SPIN4	139886	broad.mit.edu	37	X	62570773	62570773	+	Translation_Start_Site	SNP	A	A	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:62570773A>C	ENST00000374884.2	-	0	450				SPIN4_ENST00000335144.3_De_novo_Start_OutOfFrame|SPIN4-AS1_ENST00000451979.1_RNA			Q56A73	SPIN4_HUMAN	spindlin family, member 4						gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						AACACTATGCAATATGATATA	0.473000													10	10					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48705107	48705107	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:48705107G>A	ENST00000236495.5	+	13	1700	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	SLC5A9_ENST00000438567.2_Silent_p.L525L|SLC5A9_ENST00000533824.1_Silent_p.L546L	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	525						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CAGCAGTGCTGAAGGACTTCC	0.582000													24	96					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110917743	110917743	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:110917743G>A	ENST00000316534.4	-	11	1285	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	NPHP1_ENST00000393272.3_Silent_p.L403L|NPHP1_ENST00000417665.1_Silent_p.L347L|NPHP1_ENST00000355301.4_Silent_p.L285L|NPHP1_ENST00000445609.2_Silent_p.L348L			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	403					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CATGTCTGCTGAGAACCTGTA	0.373000													16	28					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	22					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196661404	196661404	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:196661404C>T	ENST00000312428.6	-	56	10511	c.10411G>A	c.(10411-10413)Gct>Act	p.A3471T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3471	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A3471P(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTTCATAGCAATGGGCCCT	0.413000													6	12					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2192726	2192726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:2192726C>T	ENST00000382203.1	+	34	4969	c.4760C>T	c.(4759-4761)aCg>aTg	p.T1587M	SMARCA2_ENST00000302401.3_Missense_Mutation_p.T275M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.T1569M|SMARCA2_ENST00000324954.5_Missense_Mutation_p.T233M|SMARCA2_ENST00000382186.1_Missense_Mutation_p.T251M|SMARCA2_ENST00000382194.1_Missense_Mutation_p.T1569M|SMARCA2_ENST00000382185.1_Missense_Mutation_p.T233M|SMARCA2_ENST00000349721.2_Missense_Mutation_p.T1587M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1587					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGAAGTGGGACGGATGATGAG	0.373000													8	31					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77425448	77425448	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:77425448C>G	ENST00000560626.2	-	6	4451	c.3976G>C	c.(3976-3978)Gac>Cac	p.D1326H	PEAK1_ENST00000312493.4_Missense_Mutation_p.D1326H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1326	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AGCCTGAAGTCTGACCAGCTG	0.453000													7	45					0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10444650	10444650	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:10444650G>A	ENST00000589261.1	-	7	1828	c.1296C>T	c.(1294-1296)gtC>gtT	p.V432V	ICAM3_ENST00000160262.5_Silent_p.V509V			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	509	Ig-like C2-type 5.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GCTCCCTGAAGACGTACATTA	0.572000													18	58					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016760	1016760	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:1016760G>T	ENST00000421673.2	-	31	6091	c.6041C>A	c.(6040-6042)aCc>aAc	p.T2014N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2014	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACCAAGGAGGTGGAGAAAGG	0.537000													30	633					3.1745e-13	3.55158e-13	1	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64602360	64602360	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:64602360C>T	ENST00000342711.5	-	18	2135	c.2136G>A	c.(2134-2136)ttG>ttA	p.L712L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	712					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CTACGTTCCTCAAGGACTCCA	0.627000													14	35					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306243	2306243	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:2306243C>T	ENST00000290974.2	-	8	2163	c.1824G>A	c.(1822-1824)gaG>gaA	p.E608E	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.E578E|ZFYVE28_ENST00000515312.1_Silent_p.E538E	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	608					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTCCTGTCTCTCAGGGGCCC	0.672000													7	41					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148577791	148577791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:148577791G>A	ENST00000506113.1	+	3	643	c.161G>A	c.(160-162)tGt>tAt	p.C54Y	ABLIM3_ENST00000508983.1_Missense_Mutation_p.C54Y|ABLIM3_ENST00000326685.7_Missense_Mutation_p.C54Y|ABLIM3_ENST00000309868.7_Missense_Mutation_p.C54Y|ABLIM3_ENST00000504238.1_Missense_Mutation_p.C54Y|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.C54Y			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	54	LIM zinc-binding 1.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATGTGGCTGTGGCCTGGCC	0.577000													28	52					0	0	1	0	0
SENP5	205564	broad.mit.edu	37	3	196650417	196650417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:196650417G>A	ENST00000323460.5	+	7	2266	c.2017G>A	c.(2017-2019)Gta>Ata	p.V673I	SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Missense_Mutation_p.V163I	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	673	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TAAGTTTTGTGTAGAGGTAAG	0.343000													8	25					0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159821580	159821580	+	Silent	SNP	T	T	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:159821580T>G	ENST00000408953.3	-	2	1425	c.918A>C	c.(916-918)ccA>ccC	p.P306P	C5orf54_ENST00000523213.1_Silent_p.P306P	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	306										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ggcgatgatttggagctctcc	0.413000													11	43					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32865416	32865416	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:32865416T>G	ENST00000317907.4	+	4	707	c.476T>G	c.(475-477)aTa>aGa	p.I159R		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	159							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCGAAGCCTATACTACTGTTA	0.403000													10	25					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1214006	1214006	+	Splice_Site	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:1214006A>G	ENST00000358378.6	+	2	991		c.e2-1							mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TTCCTCTTACAGGATCCACCA	0.532000													9	15					0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49299706	49299706	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:49299706C>A	ENST00000402551.1	-	11	1619	c.999G>T	c.(997-999)caG>caT	p.Q333H	BCAT2_ENST00000598162.1_Missense_Mutation_p.Q373H|BCAT2_ENST00000545387.2_Missense_Mutation_p.Q281H|BCAT2_ENST00000599246.1_Missense_Mutation_p.Q281H|BCAT2_ENST00000316273.6_Missense_Mutation_p.Q373H|BCAT2_ENST00000597011.1_Missense_Mutation_p.Q333H			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	373						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TCAGCTCCTTCTGGAAGCGGA	0.597000													24	62					7.92952e-12	8.77447e-12	1	1	0
DUOX1	53905	broad.mit.edu	37	15	45439714	45439714	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:45439714G>A	ENST00000321429.4	+	20	2813	c.2406G>A	c.(2404-2406)ctG>ctA	p.L802L	DUOX1_ENST00000561166.1_Silent_p.L448L|DUOX1_ENST00000389037.3_Silent_p.L802L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	802					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTGTGAGCTGAGCAGGGCCG	0.622000													7	10					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78897295	78897295	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:78897295C>T	ENST00000306801.3	+	23	2992	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F	RPTOR_ENST00000544334.2_Missense_Mutation_p.S719F|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	877					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCAGGGGCTCCCCTCCGGCG	0.632000													8	24					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188590551	188590551	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:188590551G>A	ENST00000312675.4	+	10	1956	c.1710_splice	c.e10+1	p.E570_splice	LPP_ENST00000543006.1_Splice_Site_p.E570_splice	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	570	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACCGATGCGAGGTCTGGTTGA	0.532000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								11	24					0	0	1	0	0
TRNT1	51095	broad.mit.edu	37	3	3186340	3186340	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:3186340G>T	ENST00000251607.6	+	5	656	c.554G>T	c.(553-555)gGa>gTa	p.G185V	TRNT1_ENST00000280591.6_Missense_Mutation_p.G185V	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	185					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AGATTTGTTGGACATGCTAAA	0.254000													13	23					7.03913e-09	7.70499e-09	1	1	0
AZIN1	51582	broad.mit.edu	37	8	103851015	103851015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:103851015C>A	ENST00000337198.5	-	5	1569	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	AZIN1_ENST00000347770.4_Nonsense_Mutation_p.E136*|AZIN1_ENST00000522311.1_5'UTR	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	136					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AATTCAATTTCATTGTCACAT	0.338000													3	8					0.004672	0.00481466	1	1	0
PIK3R5	23533	broad.mit.edu	37	17	8784301	8784301	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:8784301G>T	ENST00000447110.1	-	18	2540	c.2416C>A	c.(2416-2418)Cag>Aag	p.Q806K	PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q805K|PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q806K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	806					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCGATGATCTGCACCTTGTCC	0.572000													12	42					0.00010058	0.000105258	1	1	0
DEDD2	162989	broad.mit.edu	37	19	42713954	42713954	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:42713954G>A	ENST00000595337.1	-	4	574	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	DEDD2_ENST00000598727.1_Missense_Mutation_p.R163W|DEDD2_ENST00000596251.1_Missense_Mutation_p.R163W|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Missense_Mutation_p.R158W	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	163					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	p.R163W(1)		endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CCACTGGGCCGGCCCCGACTC	0.662000													8	65					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324706	31324706	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:31324706G>C	ENST00000269197.5	+	12	4894	c.4894G>C	c.(4894-4896)Gaa>Caa	p.E1632Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TAAACAAAAAGAATATCTAGA	0.428000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	15					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60694810	60694810	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:60694810G>C	ENST00000005286.4	+	2	388	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	TMEM132A_ENST00000453848.2_Missense_Mutation_p.E79Q	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	79						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTCCCGATCTGAGACCTTTCT	0.657000													19	50					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57437747	57437747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:57437747C>T	ENST00000442789.2	-	11	1072	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	MYO1A_ENST00000544473.1_Missense_Mutation_p.R100Q|MYO1A_ENST00000300119.3_Missense_Mutation_p.R262Q	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	262	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TAGCACTTGTCGAATCTCCTC	0.512000													17	45					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187628110	187628110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:187628110G>A	ENST00000441802.2	-	2	3081	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	958	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGACCAGACTGACCTAAATCA	0.473000										HNSCC(5;0.00058)			26	67					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41033196	41033196	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:41033196C>T	ENST00000399564.4	-	23	2758	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E325K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CCCTGATCCTCAGCATCTTGG	0.443000													10	23					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101347192	101347192	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:101347192C>T	ENST00000344327.3	-	6	2008	c.1584G>A	c.(1582-1584)atG>atA	p.M528I	TRPC6_ENST00000348423.4_Missense_Mutation_p.M412I|TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.M473I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	528					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAAAATCAAGCATGTTCCACA	0.418000													11	42					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59203765	59203765	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:59203765C>G	ENST00000262717.4	+	8	1709	c.1311C>G	c.(1309-1311)ttC>ttG	p.F437L	CDH20_ENST00000536675.2_Missense_Mutation_p.F437L|CDH20_ENST00000538374.1_Missense_Mutation_p.F437L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	437	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAAGATTTTTCTATGTTGACA	0.413000													25	54					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51961614	51961614	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:51961614T>A	ENST00000311234.4	-	7	1274	c.802A>T	c.(802-804)Ata>Tta	p.I268L	INTS6_ENST00000398119.2_Missense_Mutation_p.I255L|INTS6_ENST00000463928.1_Missense_Mutation_p.I268L|INTS6_ENST00000497989.1_Missense_Mutation_p.I90L|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000425000.1_5'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	268					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CTGACATATATGAGTTTGTGA	0.408000													8	22					0	0	1	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061819	29061819	+	RNA	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:29061819G>T	ENST00000582557.1	+	0	739																											TTCCATAGCAGATGACAAGTT	0.313000													3	6					0.115264	0.116124	1	1	0
MYOCD	93649	broad.mit.edu	37	17	12647665	12647665	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:12647665C>A	ENST00000425538.1	+	8	1083	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	MYOCD_ENST00000343344.4_Missense_Mutation_p.L295M|MYOCD_ENST00000395988.1_Missense_Mutation_p.L199M	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	295	Gln-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCAACAGCAGCTGTTCCTGCA	0.552000													14	26					4.3838e-07	4.72191e-07	1	1	0
RPS6KA5	9252	broad.mit.edu	37	14	91360786	91360786	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:91360786C>T	ENST00000261991.3	-	13	1788	c.1615G>A	c.(1615-1617)Gga>Aga	p.G539R	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.G460R|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.G539R	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	539	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TGCACCACTCCAACATCATGC	0.438000													12	70					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511373	58511373	+	RNA	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:58511373C>G	ENST00000588627.1	-	0	1984																											CCACCTCAATCTGGGCCTGTC	0.483000													6	15					0	0	1	0	0
MARCKSL1	65108	broad.mit.edu	37	1	32800239	32800239	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:32800239C>G	ENST00000329421.7	-	2	892	c.547G>C	c.(547-549)Gag>Cag	p.E183Q		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	183						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGCCACTCTCCGGCCCCGAG	0.612000													17	40					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169408	138169408	+	Silent	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:138169408A>G	ENST00000409968.1	+	14	3103	c.2925A>G	c.(2923-2925)ggA>ggG	p.G975G	THSD7B_ENST00000272643.3_Silent_p.G975G|THSD7B_ENST00000413152.2_Silent_p.G944G|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATAAAAATGGAAGACCTGTTG	0.532000													10	31					0	0	1	0	0
ATP5C1	509	broad.mit.edu	37	10	7830209	7830209	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:7830209G>C	ENST00000356708.7	+	1	118	c.39G>C	c.(37-39)tgG>tgC	p.W13C	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_5'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.W13C	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	13					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGTCGGCCTGGACCTTGCAGC	0.672000													5	26					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55218240	55218240	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:55218240G>C	ENST00000251091.5	+	4	1202	c.897G>C	c.(895-897)ctG>ctC	p.L299L	SAMD4A_ENST00000392067.3_Silent_p.L387L|SAMD4A_ENST00000554335.1_Silent_p.L387L|SAMD4A_ENST00000357634.3_Silent_p.L386L	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	387					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AAAATCTCCTGAAGTCTTTGG	0.358000													35	32					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119025031	119025031	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:119025031C>T	ENST00000307417.3	+	4	782	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	ABCG4_ENST00000449422.2_Missense_Mutation_p.R140C|ABCG4_ENST00000531739.1_Missense_Mutation_p.R140C	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	140	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAGGACCTTCCGCAAGATGTC	0.577000													20	46					0	0	1	0	0
TAPBPL	55080	broad.mit.edu	37	12	6566632	6566632	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:6566632C>T	ENST00000266556.7	+	4	791	c.626C>T	c.(625-627)tCc>tTc	p.S209F	TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_Missense_Mutation_p.S132F	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	209	Ig-like V-type.				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						TCCTCAGCCTCCTTGGACTGT	0.582000													15	50					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73016982	73016982	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:73016982G>A	ENST00000264839.7	+	23	3419	c.3419G>A	c.(3418-3420)cGa>cAa	p.R1140Q	RIMS1_ENST00000401910.3_Missense_Mutation_p.R611Q|RIMS1_ENST00000538414.1_Missense_Mutation_p.R97Q|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1291Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1114Q|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1083Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1083Q|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000522291.1_Intron			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1291					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)				GTGGAGGAGCGAACAAGACAG	0.383000													3	7					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230496	38230496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:38230496C>T	ENST00000339503.4	-	8	1222	c.721G>A	c.(721-723)Gag>Aag	p.E241K	ZNF573_ENST00000392138.1_Missense_Mutation_p.E212K|ZNF573_ENST00000536220.1_Missense_Mutation_p.E211K|ZNF573_ENST00000590414.2_Missense_Mutation_p.E299K|ZNF573_ENST00000357309.3_Missense_Mutation_p.E211K	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TATGGCTTCTCATCAGTATGA	0.408000													16	63					0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39224390	39224390	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:39224390G>C	ENST00000328867.4	-	18	2218	c.1910C>G	c.(1909-1911)tCt>tGt	p.S637C	CAPN12_ENST00000601953.1_Missense_Mutation_p.S488C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	637	Domain IV.|EF-hand.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CATGGTTCCAGAGGTGTCCTC	0.597000													8	35					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33380521	33380521	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:33380521G>C	ENST00000374516.3	+	4	559	c.288G>C	c.(286-288)gaG>gaC	p.E96D	PHF1_ENST00000374512.3_Missense_Mutation_p.E96D|PHF1_ENST00000459809.1_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	96					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GTCGCTCTGAGACTGTGGTCC	0.582000													13	60					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159092224	159092224	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:159092224G>C	ENST00000296530.8	-	2	925	c.304C>G	c.(304-306)Ctg>Gtg	p.L102V	FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.L102V|FAM198B_ENST00000585682.1_Missense_Mutation_p.L102V|FAM198B_ENST00000592057.1_Missense_Mutation_p.L102V	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	102						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TTGGGCTGCAGAGTGGACCCA	0.622000													17	70					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48058088	48058088	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:48058088G>C	ENST00000316364.5	+	14	1889	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	SEMA6D_ENST00000558014.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D484H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D484H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D484H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D484H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	484	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GAATGAGGAAGACAAAAAGGT	0.443000													15	25					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862606	14862606	+	Silent	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:14862606T>C	ENST00000285046.5	+	1	2138	c.2028T>C	c.(2026-2028)tcT>tcC	p.S676S	FGD5_ENST00000543601.1_Silent_p.S435S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	676					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGAACGTGTCTTCCTCTAGGT	0.502000													9	32					0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31828126	31828126	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:31828126G>T	ENST00000354297.4	+	5	587	c.516G>T	c.(514-516)agG>agT	p.R172S	BPIFA1_ENST00000375413.4_Missense_Mutation_p.R172S|BPIFA1_ENST00000375422.2_Missense_Mutation_p.R172S	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	172					innate immune response	extracellular region	lipid binding										AGCAGGAGAGGATCCACCTGG	0.552000													32	118					2.08457e-15	2.34514e-15	1	1	0
PHLDB1	23187	broad.mit.edu	37	11	118498622	118498622	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:118498622C>T	ENST00000361417.2	+	7	1494	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	PHLDB1_ENST00000356063.5_Silent_p.I361I	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	361										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGGTGGCCATCAGCCTGAGTG	0.632000													14	34					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204058534	204058534	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:204058534G>C	ENST00000449802.1	+	46	7184	c.6851G>C	c.(6850-6852)aGa>aCa	p.R2284T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2284	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACCCTCCAAGATTATCAGCA	0.363000													6	28					0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55237392	55237392	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:55237392A>G	ENST00000381298.2	-	17	2587	c.2275T>C	c.(2275-2277)Tat>Cat	p.Y759H	IL6ST_ENST00000381294.3_Missense_Mutation_p.Y698H|IL6ST_ENST00000502326.3_Missense_Mutation_p.Y759H|IL6ST_ENST00000381287.4_3'UTR|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.Y759H	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	759					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ACGGTAGAATACTGGACAGTG	0.478000			O		hepatocellular ca								19	53					0	0	1	0	0
LANCL3	347404	broad.mit.edu	37	X	37526544	37526544	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:37526544A>G	ENST00000378621.3	+	4	1207	c.905A>G	c.(904-906)tAt>tGt	p.Y302C	LANCL3_ENST00000378619.3_Missense_Mutation_p.Y302C|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	302							catalytic activity			lung(4)|pancreas(1)	5						GGAATTGCCTATCTGTTTGCC	0.423000													12	12					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150730891	150730891	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:150730891G>T	ENST00000358849.4	+	2	388	c.295G>T	c.(295-297)Gaa>Taa	p.E99*	ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000498578.1_Nonsense_Mutation_p.E99*|ABCB8_ENST00000356058.4_Nonsense_Mutation_p.E136*|ABCB8_ENST00000477719.1_Nonsense_Mutation_p.E99*|ABCB8_ENST00000297504.6_Nonsense_Mutation_p.E116*|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000477092.1_Nonsense_Mutation_p.E99*	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	116						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGTGAGGCAGAAGAGGCCCC	0.632000													13	49					2.31682e-05	2.47576e-05	1	1	0
KCNK9	51305	broad.mit.edu	37	8	140631260	140631260	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:140631260C>T	ENST00000520439.1	-	2	429	c.366G>A	c.(364-366)ctG>ctA	p.L122L	KCNK9_ENST00000303015.1_Silent_p.L122L			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	122						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGAACATGACCAGTGTCAGCG	0.597000													5	33					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	156241659	156241659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:156241659G>A	ENST00000302490.8	+	12	1821	c.950G>A	c.(949-951)aGa>aAa	p.R317K	KCNAB1_ENST00000389634.5_Missense_Mutation_p.R288K|KCNAB1_ENST00000389636.5_Missense_Mutation_p.R306K|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000471742.1_Missense_Mutation_p.R324K|KCNAB1_ENST00000490337.1_Missense_Mutation_p.R335K	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	335						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAAGAAGGGAGAAAACAGCAA	0.408000													13	38					0	0	1	0	0
N6AMT2	221143	broad.mit.edu	37	13	21306231	21306231	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:21306231T>C	ENST00000382758.1	-	4	304	c.257A>G	c.(256-258)tAc>tGc	p.Y86C	N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y86C			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	86							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GAGTTTCTGGTAAACACTAGG	0.378000													9	41					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180486626	180486626	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:180486626G>A	ENST00000327705.9	+	11	1603	c.1372G>A	c.(1372-1374)Gga>Aga	p.G458R	BTNL9_ENST00000376842.3_Missense_Mutation_p.G459R	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	458	B30.2/SPRY.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACGAGGCCGGAGAGCTGTC	0.682000													10	37					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88963635	88963635	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:88963635C>T	ENST00000556564.1	-	9	1049		c.e9-1		PTPN21_ENST00000328736.3_Splice_Site|PTPN21_ENST00000554628.1_Splice_Site	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21							cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCATGCCACCTAAAGAACAG	0.418000													17	24					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40312144	40312144	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:40312144C>G	ENST00000264661.3	-	16	3300	c.2968G>C	c.(2968-2970)Gga>Cga	p.G990R	KCNH4_ENST00000607371.1_Missense_Mutation_p.G990R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	990					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAGAGGGTCCCAGAGGGTCA	0.632000													18	39					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2111962	2111962	+	Nonsense_Mutation	SNP	C	C	T	rs45457701		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:2111962C>T	ENST00000219476.3	+	12	1840	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	TSC2_ENST00000401874.2_Nonsense_Mutation_p.Q404*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.Q404*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.Q404*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.Q355*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.Q415*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.Q367*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	404					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCACGGGTCTCAGGAGAGATA	0.617000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				13	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179566974	179566974	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:179566974T>A	ENST00000589042.1	-	108	30658		c.e108-2		TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			AGTAGACACCTAGGGTGAAAA	0.418000													6	19					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127569387	127569387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:127569387C>T	ENST00000284690.3	-	1	497	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	DHX32_ENST00000284688.6_Missense_Mutation_p.E3K	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	3						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGCCCTTCTTCTTCCATCTTG	0.463000													17	44					0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35842634	35842634	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:35842634C>T	ENST00000377988.2	+	6	1487	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	TMEM8B_ENST00000377996.1_Missense_Mutation_p.R67C|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000439587.2_Missense_Mutation_p.R67C|TMEM8B_ENST00000377991.4_Missense_Mutation_p.R67C	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	67					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TCCCCCTGAGCGCCCAGCCGT	0.612000													12	27					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87180046	87180046	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:87180046C>G	ENST00000265724.3	-	11	1525	c.1108G>C	c.(1108-1110)Gat>Cat	p.D370H	ABCB1_ENST00000543898.1_Missense_Mutation_p.D306H	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	370					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTTACATTATCAATTATCTTG	0.373000													4	10					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5823980	5823980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:5823980G>A	ENST00000339450.5	-	4	879	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	ERMP1_ENST00000381506.3_Nonsense_Mutation_p.Q40*|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	264					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CAGGGGTGCTGAGTAATGAAA	0.393000													5	33					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146818173	146818173	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:146818173G>A	ENST00000361727.3	+	6	1373	c.857G>A	c.(856-858)cGg>cAg	p.R286Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	286	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCCAGGGGCGGAGCATTAAC	0.527000										HNSCC(39;0.1)			10	31					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008411	184008411	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:184008411C>T	ENST00000402825.3	+	15	2076	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P	ECE2_ENST00000404464.3_Silent_p.P574P|ECE2_ENST00000357474.5_Silent_p.P620P|ECE2_ENST00000359140.4_Silent_p.P545P|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	692	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCGTCTTCCCCGCTGGCATCC	0.627000													20	87					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30748845	30748845	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:30748845C>G	ENST00000262518.4	+	34	7869	c.7484C>G	c.(7483-7485)tCt>tGt	p.S2495C	SRCAP_ENST00000344771.4_Missense_Mutation_p.S2337C|SRCAP_ENST00000395059.2_Missense_Mutation_p.S2433C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2495	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			cctccttgttcttctcctgcc	0.547000													10	20					0	0	1	0	0
C9orf117	286207	broad.mit.edu	37	9	130474932	130474932	+	Missense_Mutation	SNP	C	C	G	rs73600054	by1000genomes	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:130474932C>G	ENST00000373293.5	+	1	764	c.29C>G	c.(28-30)aCg>aGg	p.T10R	C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373295.2_Intron			Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	0										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATTTCCTGGACGAGGGTGGGT	0.572000													3	28					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863279	23863279	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:23863279C>T	ENST00000405093.3	-	21	2753	c.2683G>A	c.(2683-2685)Gcg>Acg	p.A895T	MYH6_ENST00000356287.3_Missense_Mutation_p.A895T	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	895					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGCCTCACCGCCTGCACTTGG	0.582000													57	39					0	0	1	0	0
CIRBP	1153	broad.mit.edu	37	19	1271989	1271989	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:1271989G>C	ENST00000444172.2	+	5	416	c.282G>C	c.(280-282)caG>caC	p.Q94H	CIRBP_ENST00000588230.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000586472.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000320936.5_Missense_Mutation_p.Q147H|CIRBP_ENST00000589235.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000588030.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000588090.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000591935.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000587896.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000585630.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000586773.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589660.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589686.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589710.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000413636.2_Missense_Mutation_p.Q113H|CIRBP_ENST00000587323.1_Missense_Mutation_p.Q147H			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	147	Gly-rich.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		GCCGGAGTCAGAGTGGTGGCT	0.612000													19	69					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506330	178506330	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:178506330G>A	ENST00000315475.6	+	5	1203	c.897G>A	c.(895-897)ccG>ccA	p.P299P		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GAGAGAAACCGTATCGATGTA	0.413000													19	58					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527527	16527527	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:16527527G>C	ENST00000311331.7	-	6	764	c.673C>G	c.(673-675)Caa>Gaa	p.Q225E		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTTGTGTTTGGCATCTGCTG	0.398000													11	33					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103260442	103260442	+	Splice_Site	SNP	C	C	A	rs62514907		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:103260442C>A	ENST00000553106.1	-	5	914		c.e5-1		PAH_ENST00000551988.1_Intron|PAH_ENST00000307000.2_Splice_Site	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase						catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTTAAAACCCTAGGAGAAAA	0.468000													7	37					0.0381472	0.0387209	1	1	0
ZNF202	7753	broad.mit.edu	37	11	123598959	123598959	+	Silent	SNP	C	C	T	rs144471098	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:123598959C>T	ENST00000336139.4	-	6	1076	c.714G>A	c.(712-714)acG>acA	p.T238T	ZNF202_ENST00000529691.1_Silent_p.T238T|ZNF202_ENST00000530393.1_Silent_p.T238T			O95125	ZN202_HUMAN	zinc finger protein 202	238	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CATCCTTGAACGTTACCAGTC	0.463000													4	50					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170096157	170096157	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:170096157C>G	ENST00000263816.3	-	26	4459	c.4174G>C	c.(4174-4176)Gat>Cat	p.D1392H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1392	EGF-like 6; calcium-binding (Potential).				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)	TCACATTCATCTATGTCTTCA	0.438000													16	40					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395530	154395530	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:154395530C>T	ENST00000435029.4	+	1	2271	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	704	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGACGTAAAACGGAAGAGGCA	0.463000													13	50					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125592865	125592865	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:125592865C>G	ENST00000504087.1	-	4	2604	c.1567G>C	c.(1567-1569)Gaa>Caa	p.E523Q	ANKRD50_ENST00000515641.1_Missense_Mutation_p.E344Q	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	523										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCCTCTCTTTCTAAGGCTTGT	0.423000													14	53					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50942864	50942864	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:50942864C>G	ENST00000216080.5	-	12	1716	c.1548G>C	c.(1546-1548)caG>caC	p.Q516H	LMF2_ENST00000380796.3_Missense_Mutation_p.Q428H|LMF2_ENST00000474879.2_Missense_Mutation_p.Q541H			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	541						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACTTGGCTCTGGACAAGGC	0.672000													14	27					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815925	82815925	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:82815925C>G	ENST00000265077.3	+	7	2365	c.1800C>G	c.(1798-1800)gtC>gtG	p.V600V	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.V552V|VCAN_ENST00000342785.4_Silent_p.V600V|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	600	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGGAGTCAGTCTCAGCATCCA	0.423000													22	48					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44135751	44135751	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:44135751G>A	ENST00000395673.3	+	4	798	c.742G>A	c.(742-744)Ggc>Agc	p.G248S	EXT2_ENST00000358681.4_Missense_Mutation_p.G215S|EXT2_ENST00000533608.1_Missense_Mutation_p.G215S|EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000343631.3_Missense_Mutation_p.G215S	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	215					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTTGGCTGGTGGCGGCTTTTC	0.473000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				16	50					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47786901	47786901	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:47786901C>T	ENST00000263773.5	-	2	246	c.234G>A	c.(232-234)gcG>gcA	p.A78A	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	78								p.A78A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCTCCTGCACCGCTTCCTGTT	0.378000													39	89					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200969536	200969536	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:200969536A>T	ENST00000332129.2	-	11	1983	c.1667T>A	c.(1666-1668)gTc>gAc	p.V556D	KIF21B_ENST00000461742.2_Missense_Mutation_p.V556D|KIF21B_ENST00000422435.2_Missense_Mutation_p.V556D|KIF21B_ENST00000360529.5_Missense_Mutation_p.V556D	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	556					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCGCTGCCTGACCTCCTTCTT	0.687000													63	69					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31349455	31349455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:31349455C>T	ENST00000336798.7	-	1	2132	c.640G>A	c.(640-642)Gag>Aag	p.E214K	SDC3_ENST00000339394.6_Missense_Mutation_p.E272K			O75056	SDC3_HUMAN	syndecan 3	272	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCTCCTCTCAGGGATGTCA	0.682000													10	19					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66618577	66618577	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:66618577C>T	ENST00000319194.5	+	12	2088	c.1827C>T	c.(1825-1827)gtC>gtT	p.V609V	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Silent_p.V692V	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	692					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACCACTGGGTCGCCAAAAAGA	0.542000													15	42					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40251521	40251521	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:40251521G>C	ENST00000302541.6	+	11	2184	c.1842G>C	c.(1840-1842)gaG>gaC	p.E614D	MYRIP_ENST00000539167.1_Missense_Mutation_p.E427D|MYRIP_ENST00000396217.3_Missense_Mutation_p.E525D|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.E614D|MYRIP_ENST00000444716.1_Missense_Mutation_p.E614D	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	614	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAGAATCTGAGAACCAGAAGG	0.493000													8	19					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170139444	170139444	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:170139444C>G	ENST00000263816.3	-	10	1395	c.1110G>C	c.(1108-1110)ctG>ctC	p.L370L	LRP2_ENST00000443831.1_Silent_p.L370L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	370	EGF-like 2.				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)	CACAGTGGCACAGGTGACGGC	0.443000													18	81					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193120568	193120568	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:193120568T>A	ENST00000342695.4	-	30	3786	c.3464A>T	c.(3463-3465)cAg>cTg	p.Q1155L	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q1136L|ATP13A4_ENST00000400270.2_Missense_Mutation_p.Q171L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1155					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAAGTCCCTCTGCCATATCCG	0.468000													5	38					0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49299738	49299738	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:49299738C>T	ENST00000402551.1	-	11	1587	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	BCAT2_ENST00000598162.1_Missense_Mutation_p.E363K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E271K|BCAT2_ENST00000599246.1_Missense_Mutation_p.E271K|BCAT2_ENST00000316273.6_Missense_Mutation_p.E363K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E323K			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	363						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GGCCCATTTTCCATGGTGGGA	0.622000													22	59					0	0	1	0	0
MTHFD2	10797	broad.mit.edu	37	2	74425844	74425844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:74425844C>T	ENST00000394053.2	+	1	156	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000409601.1_Missense_Mutation_p.R26C|MTHFD2_ENST00000264090.4_5'UTR|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.R26C	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	26					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CCTTCGCCTTCGCCCTTTCCA	0.687000													12	8					0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92964763	92964763	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:92964763C>G	ENST00000538690.1	+	5	906	c.345C>G	c.(343-345)agC>agG	p.S115R	FAM133A_ENST00000332647.4_Missense_Mutation_p.S115R|FAM133A_ENST00000322139.4_Missense_Mutation_p.S115R|FAM133A_ENST00000355813.5_Missense_Mutation_p.S115R	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	115	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						ATTCTTCAAGCAGTTCTTCAG	0.363000													4	7					0	0	1	0	0
FHL2	2274	broad.mit.edu	37	2	106015388	106015388	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:106015388C>T	ENST00000344213.4	-	1	293	c.166G>A	c.(166-168)Gag>Aag	p.E56K	FHL2_ENST00000322142.8_Intron|FHL2_ENST00000393353.3_5'UTR|FHL2_ENST00000336660.5_Intron|FHL2_ENST00000358129.4_5'UTR|FHL2_ENST00000607522.1_Intron|FHL2_ENST00000408995.1_Intron|FHL2_ENST00000393352.3_Intron|FHL2_ENST00000409177.1_Intron			Q14192	FHL2_HUMAN	four and a half LIM domains 2	0	LIM zinc-binding 1.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						CTAAGCCCCTCGGCCTCCCTC	0.731000													5	8					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44910975	44910975	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:44910975G>T	ENST00000377967.4	+	9	717	c.676G>T	c.(676-678)Gaa>Taa	p.E226*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E226*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E226*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E226*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	226					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCTGCAAAAGAAGCTTATGA	0.284000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								3	7					0.115264	0.116124	1	1	0
SYNRG	11276	broad.mit.edu	37	17	35932001	35932001	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:35932001C>T	ENST00000339208.6	-	9	1127	c.987G>A	c.(985-987)ggG>ggA	p.G329G	SYNRG_ENST00000345615.4_Silent_p.G251G|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Silent_p.G250G|SYNRG_ENST00000502449.2_Silent_p.G251G|SYNRG_ENST00000346661.4_Silent_p.G329G|SYNRG_ENST00000591288.1_Silent_p.G251G|SYNRG_ENST00000394378.2_Silent_p.G251G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	329	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCTGGGAAGCCCAGATGACA	0.403000													15	42					0	0	1	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864135	31864135	+	Silent	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr21:31864135G>T	ENST00000334063.4	-	1	140	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	47						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CAAAGCCAGAGCCATATCCGT	0.557000													47	176					8.72198e-27	9.89468e-27	1	1	0
PEG3	5178	broad.mit.edu	37	19	57334959	57334959	+	Splice_Site	SNP	A	A	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:57334959A>C	ENST00000326441.9	-	5	845		c.e5+1		ZIM2_ENST00000601070.1_Splice_Site_p.S35_splice|PEG3_ENST00000598410.1_Splice_Site_p.S35_splice|ZIM2_ENST00000599935.1_Splice_Site_p.S35_splice|ZIM2_ENST00000221722.5_Splice_Site_p.S35_splice|ZIM2_ENST00000593931.1_Splice_Site_p.S35_splice|PEG3_ENST00000593695.1_Splice_Site|ZIM2_ENST00000593711.1_Splice_Site_p.S35_splice|PEG3_ENST00000423103.2_Splice_Site|ZIM2_ENST00000391708.3_Splice_Site_p.S35_splice	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3						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)		GGTACTCACCACTGAAAGAAT	0.572000													12	32					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104161543	104161543	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:104161543G>C	ENST00000369966.3	+	21	2585	c.2335G>C	c.(2335-2337)Gag>Cag	p.E779Q	NFKB2_ENST00000189444.6_Missense_Mutation_p.E779Q|NFKB2_ENST00000428099.1_Missense_Mutation_p.E779Q	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	779	Death.		Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GCAGAACCTGGAGCAGCTGCT	0.602000			T	IGH@	B-NHL								3	18					0	0	1	0	0
ERMN	57471	broad.mit.edu	37	2	158178271	158178271	+	Missense_Mutation	SNP	T	T	C	rs140855571	by1000genomes	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:158178271T>C	ENST00000410096.1	-	3	658	c.367A>G	c.(367-369)Agt>Ggt	p.S123G	ERMN_ENST00000535935.1_Missense_Mutation_p.S17G|ERMN_ENST00000397283.2_Missense_Mutation_p.S136G|ERMN_ENST00000409925.1_3'UTR|ERMN_ENST00000420719.2_Missense_Mutation_p.S103G|ERMN_ENST00000409216.1_3'UTR	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	123						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCCTGGTTACTGCCACTCAGA	0.448000													3	26					0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52622709	52622709	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:52622709G>A	ENST00000493422.1	-	2	192	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	13	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	ATTCTGCCCCGTATATTGGAG	0.468000													17	31					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53837488	53837488	+	Missense_Mutation	SNP	G	G	A	rs139829141	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:53837488G>A	ENST00000288139.3	+	45	5652	c.5534G>A	c.(5533-5535)cGg>cAg	p.R1845Q	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1801Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1825Q|CACNA1D_ENST00000544977.1_Missense_Mutation_p.R204Q	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1825					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACTATTTGCCGGGAAGACCCA	0.557000													34	91					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74076447	74076447	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:74076447C>G	ENST00000334586.5	+	5	569	c.486C>G	c.(484-486)ctC>ctG	p.L162L	ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	162					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.L161L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TTGAGCTCCTCCACTTCCCCC	0.642000													17	53					0	0	1	0	0
RNLS	55328	broad.mit.edu	37	10	90342943	90342943	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:90342943G>A	ENST00000371947.3	-	1	1344	c.5C>T	c.(4-6)gCg>gTg	p.A2V	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Missense_Mutation_p.A2V|RNLS_ENST00000331772.4_Missense_Mutation_p.A2V	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	2						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CAGCACCTGCGCCATGGCGAG	0.672000											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	27					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73345252	73345252	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:73345252G>A	ENST00000377767.4	-	12	1737	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	DIS3_ENST00000545453.1_Missense_Mutation_p.S384F|DIS3_ENST00000377780.4_Missense_Mutation_p.S516F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	546					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ACACAAGTTAGAGCTAAGCAA	0.353000										Multiple Myeloma(4;0.011)			4	10					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744824	62744824	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:62744824C>G	ENST00000377871.3	-	9	1663	c.1397G>C	c.(1396-1398)cGa>cCa	p.R466P	SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.R466P|SLC22A6_ENST00000421062.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	466					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCTGCCCACTCGGGCCATGGT	0.622000													5	23					0	0	1	0	0
UBQLN4	56893	broad.mit.edu	37	1	156021499	156021499	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:156021499C>T	ENST00000368309.3	-	2	350	c.258G>A	c.(256-258)caG>caA	p.Q86Q	UBQLN4_ENST00000368307.1_Silent_p.Q86Q|UBQLN4_ENST00000472638.1_5'UTR	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	86	Ubiquitin-like.					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GAACTTACTTCTGAGGGGTCT	0.522000													12	26					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57112437	57112437	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:57112437C>T	ENST00000454682.1	-	3	3158	c.2877G>A	c.(2875-2877)ccG>ccA	p.P959P	NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	p.P959P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGCCCATTTCGGGGATGGGG	0.657000			T	BCL6	NHL								11	31					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103029457	103029457	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:103029457C>G	ENST00000306312.3	-	14	1773	c.1512G>C	c.(1510-1512)caG>caC	p.Q504H	SLC26A5_ENST00000393730.1_Missense_Mutation_p.Q472H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.Q472H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.Q504H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.Q504H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.Q467H|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.Q472H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.Q504H	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	504					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCACTCACCTCTGTGTTCTGT	0.468000													8	27					0	0	1	0	0
IGLV7-43	28776	broad.mit.edu	37	22	22749593	22749593	+	RNA	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:22749593C>T	ENST00000390298.2	+	0	151																											CAGTCACTCTCACCTGTGCTT	0.498000													4	26					0	0	1	0	0
MRPS22	56945	broad.mit.edu	37	3	139067062	139067062	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:139067062G>C	ENST00000495075.1	+	5	832	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	MRPS22_ENST00000465056.1_Missense_Mutation_p.E133Q|MRPS22_ENST00000478464.1_Missense_Mutation_p.E93Q|MRPS22_ENST00000310776.4_Missense_Mutation_p.E134Q			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	134						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						AGTTCTGGAAGAGCGAGTACC	0.358000													7	20					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133835	57133835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:57133835C>T	ENST00000328070.6	+	3	1414	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	394						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R394S(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTTCACGGGGCGCTCGTCCCT	0.627000													15	52					0	0	1	0	0
RASD1	51655	broad.mit.edu	37	17	17399376	17399376	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:17399376G>A	ENST00000225688.3	-	1	331	c.120C>T	c.(118-120)atC>atT	p.I40I	RASD1_ENST00000579152.1_Silent_p.I40I	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	40					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						AGCGCGACACGATGGCCGTCT	0.617000													24	48					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17008587	17008587	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:17008587G>A	ENST00000443236.1	-	39	5152	c.5121C>T	c.(5119-5121)aaC>aaT	p.N1707N		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1660	Kazal-like.					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGTGCTGACGTTGTAGAAGC	0.746000													3	4					0	0	1	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441150	37441150	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:37441150C>G	ENST00000307750.4	-	2	1587	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		AATGGGTTCTCTACATGGGAG	0.597000													15	14					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211308	38211308	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:38211308C>G	ENST00000379705.3	-	11	3523	c.2666G>C	c.(2665-2667)cGa>cCa	p.R889P	TRPC4_ENST00000338947.5_Missense_Mutation_p.R716P|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.R748P|TRPC4_ENST00000379679.1_Missense_Mutation_p.R716P|TRPC4_ENST00000355779.2_Missense_Mutation_p.R748P|TRPC4_ENST00000379673.2_Missense_Mutation_p.R740P|TRPC4_ENST00000358477.2_Missense_Mutation_p.R805P|TRPC4_ENST00000379681.3_Missense_Mutation_p.R894P			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	889	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGCTAATCCTCGAGATTCCAG	0.468000													12	30					0	0	1	0	0
SDS	10993	broad.mit.edu	37	12	113836333	113836333	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:113836333C>A	ENST00000257549.4	-	5	534	c.412G>T	c.(412-414)Gac>Tac	p.D138Y		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	138					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATGAGGGGGTCATCAAAGGGG	0.547000													14	36					4.7546e-09	5.23265e-09	1	1	0
MYH9	4627	broad.mit.edu	37	22	36708234	36708234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:36708234C>T	ENST00000216181.5	-	14	1818	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	530	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E530K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCACTCCTCGTCCAGCAGG	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				15	44					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2202460	2202460	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:2202460C>T	ENST00000544865.1	-	2	2004	c.1494G>A	c.(1492-1494)caG>caA	p.Q498Q	SMG6_ENST00000263073.5_Silent_p.Q529Q			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	529	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCACTGGGTACTGTAGAGGGT	0.532000													41	103					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118514626	118514626	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:118514626G>A	ENST00000361417.2	+	15	3397	c.2986G>A	c.(2986-2988)Gtg>Atg	p.V996M	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.V949M|PHLDB1_ENST00000524713.1_Missense_Mutation_p.V139M|PHLDB1_ENST00000527898.1_Missense_Mutation_p.V32M	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	996										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		cCAGCTCAGCGTGGCTACCCT	0.687000													9	26					0	0	1	0	0
BABAM1	29086	broad.mit.edu	37	19	17382437	17382437	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:17382437C>T	ENST00000359435.4	+	3	510	c.317C>T	c.(316-318)tCa>tTa	p.S106L	CTD-2278I10.6_ENST00000596542.1_Intron|BABAM1_ENST00000595632.1_Missense_Mutation_p.S106L|BABAM1_ENST00000447614.2_Missense_Mutation_p.S106L|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000598188.1_Missense_Mutation_p.S106L|BABAM1_ENST00000601043.1_Missense_Mutation_p.S106L	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	106	VWFA-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						GAGGAAATGTCACTGCCAAAG	0.557000													8	12					0	0	1	0	0
SUPT20H	55578	broad.mit.edu	37	13	37602362	37602362	+	Silent	SNP	A	A	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:37602362A>T	ENST00000360252.4	-	14	1324	c.1077T>A	c.(1075-1077)ctT>ctA	p.L359L	SUPT20H_ENST00000356185.3_Silent_p.L359L|SUPT20H_ENST00000464744.1_Silent_p.L359L|SUPT20H_ENST00000542180.1_Silent_p.L322L|SUPT20H_ENST00000350612.6_Silent_p.L358L|SUPT20H_ENST00000475892.1_Silent_p.L358L	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		GTGGATCTCCAAGCGACTGCA	0.383000													3	20					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77623925	77623925	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:77623925C>T	ENST00000316249.3	+	1	258	c.258C>T	c.(256-258)cgC>cgT	p.R86R		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	86					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CGCTTTTGCGCGCAGGGAAGC	0.706000													7	10					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579722	7579722	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:7579722C>G	ENST00000420246.2	-	3	207		c.e3-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L26fs*18(1)|p.P13fs*18(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)		TTCAGGAAGTCTGAAAGACAA	0.622000		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)			18	32					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166905425	166905425	+	Silent	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:166905425T>C	ENST00000423058.2	-	7	1016	c.999A>G	c.(997-999)gcA>gcG	p.A333A	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.A333A|SCN1A_ENST00000303395.4_Silent_p.A333A|SCN1A_ENST00000375405.3_Silent_p.A333A	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	333						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CACATAGTAGTGCATCTAAAA	0.328000													3	11					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43014265	43014265	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:43014265G>C	ENST00000535468.1	-	11	2810	c.2724C>G	c.(2722-2724)ctC>ctG	p.L908L	CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000265348.3_Silent_p.L824L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	824	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACAGGTATCTGAGGAACACAT	0.557000													7	26					0	0	1	0	0
TMEM110	375346	broad.mit.edu	37	3	52877740	52877740	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:52877740G>C	ENST00000355083.5	-	6	760	c.615C>G	c.(613-615)gtC>gtG	p.V205V	TMEM110-MUSTN1_ENST00000504329.1_Silent_p.V205V	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		CACTGACGTTGACAAAGAAGG	0.502000													19	42					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144460010	144460010	+	Silent	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:144460010T>C	ENST00000283131.3	+	13	2151	c.1689T>C	c.(1687-1689)ggT>ggC	p.G563G		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	563	Helicase C-terminal.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GTGCTGGTGGTCTTGGCATCA	0.383000													25	51					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118198822	118198822	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:118198822G>A	ENST00000425217.1	-	4	947	c.893C>T	c.(892-894)aCg>aTg	p.T298M	KSR2_ENST00000339824.5_Missense_Mutation_p.T327M	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	327					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)					TCACTTGGGCGTGTGGGCCTC	0.652000													21	37					0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166180	71166180	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:71166180G>C	ENST00000357585.2	+	2	1091	c.722G>C	c.(721-723)cGa>cCa	p.R241P	SSTR2_ENST00000315332.2_Missense_Mutation_p.R241P|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	241					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTGGAATCCGAGTGGGCTCC	0.483000													17	82					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152265497	152265497	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:152265497G>T	ENST00000440973.1	+	6	1320	c.950G>T	c.(949-951)aGt>aTt	p.S317I	ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000206249.3_Missense_Mutation_p.S317I|ESR1_ENST00000544394.1_Missense_Mutation_p.S144I|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.S317I|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.S317I	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	317	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CAGATGGTCAGTGCCTTGTTG	0.547000													16	51					4.14922e-12	4.60393e-12	1	1	0
ERC2	26059	broad.mit.edu	37	3	55984528	55984528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:55984528C>G	ENST00000288221.6	-	13	2583	c.2328G>C	c.(2326-2328)aaG>aaC	p.K776N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	776						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CATTTTTCTTCTTTTCCAACT	0.433000													13	31					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283469	152283469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:152283469G>A	ENST00000368799.1	-	3	3928	c.3893C>T	c.(3892-3894)tCt>tTt	p.S1298F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1298	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctgctcccgagaagatccatg	0.552000									Ichthyosis				51	166					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61585204	61585204	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:61585204C>G	ENST00000238508.3	+	4	299	c.240C>G	c.(238-240)ttC>ttG	p.F80L		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TAAAGGAATTCAACTTGAGCA	0.348000													6	19					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11032100	11032100	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:11032100G>A	ENST00000327064.4	+	15	1855	c.1665G>A	c.(1663-1665)atG>atA	p.M555I	CARM1_ENST00000344150.4_Intron	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	555	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.M555I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTCCATAATGAGCACGGGGA	0.672000													44	107					0	0	1	0	0
FBXO48	554251	broad.mit.edu	37	2	68691491	68691491	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:68691491C>T	ENST00000377957.2	-	4	725	c.318G>A	c.(316-318)ctG>ctA	p.L106L		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	106										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						GGTAATTCCTCAGCAGTATCA	0.408000													9	31					0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281756	71281756	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:71281756G>C	ENST00000335793.3	-	2	1278	c.884C>G	c.(883-885)tCa>tGa	p.S295*	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Nonsense_Mutation_p.S225*			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	295					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GCTGCGGGCTGAGCCGGGGCT	0.711000													9	23					0	0	1	0	0
CNIH4	29097	broad.mit.edu	37	1	224544695	224544695	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:224544695C>G	ENST00000465271.1	+	1	144	c.69_splice	c.e1+1	p.F23_splice	CNIH4_ENST00000366856.3_Splice_Site_p.F23_splice|CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366858.3_Splice_Site_p.F23_splice|CNIH4_ENST00000366857.5_Splice_Site_p.F23_splice	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	23					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		CGGTCTACTTCGTATCCTTGC	0.662000													7	2					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155884061	155884061	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:155884061C>T	ENST00000368321.3	-	14	1719	c.1696G>A	c.(1696-1698)Gct>Act	p.A566T	KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	566										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCAGCATAAGCCACCAAGCCA	0.438000													6	24					0	0	1	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3592908	3592908	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:3592908C>G	ENST00000550383.1	-	7	819	c.631G>C	c.(631-633)Gtc>Ctc	p.V211L	P2RX5_ENST00000345901.3_Missense_Mutation_p.V187L|P2RX5_ENST00000435558.1_Missense_Mutation_p.V211L|P2RX5_ENST00000552276.1_Missense_Mutation_p.V210L|P2RX5_ENST00000552050.1_Missense_Mutation_p.V151L|P2RX5_ENST00000225328.5_Missense_Mutation_p.V211L|P2RX5_ENST00000551178.1_Missense_Mutation_p.V186L|P2RX5_ENST00000550772.1_Intron|P2RX5_ENST00000547178.1_Missense_Mutation_p.V210L																							CTGTCCTTGACGTCCATCACA	0.577000													27	74					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56216472	56216472	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:56216472G>A	ENST00000357606.3	-	6	1968	c.1679C>T	c.(1678-1680)gCt>gTt	p.A560V	RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Missense_Mutation_p.A560V|DNAJC14_ENST00000317287.5_Missense_Mutation_p.A560V|RP11-762I7.5_ENST00000546837.1_Silent_p.C189C			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	560					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						ATTACACTCAGCACAGTATCT	0.473000													26	64					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195452896	195452896	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:195452896C>G	ENST00000320736.6	+	3	1035	c.909C>G	c.(907-909)gtC>gtG	p.V303V	MUC20_ENST00000445522.2_Silent_p.V439V|MUC20_ENST00000436408.1_Silent_p.V474V|MUC20_ENST00000447234.2_Silent_p.V474V	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	474	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCACTGAGGTCACAGCCTCTG	0.602000													8	49					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187542861	187542861	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:187542861G>A	ENST00000441802.2	-	10	5088	c.4879C>T	c.(4879-4881)Cga>Tga	p.R1627*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1627	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGTTACTTCGATCTAATTCT	0.368000										HNSCC(5;0.00058)			3	11					0	0	1	0	0
IGIP	492311	broad.mit.edu	37	5	139508127	139508127	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:139508127C>T	ENST00000333305.3	+	1	2607	c.66C>T	c.(64-66)gtC>gtT	p.V22V		NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN	IgA-inducing protein	22						extracellular region											TATTTGCTGTCATGTTCTCCC	0.383000													11	36					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116060094	116060094	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:116060094G>C	ENST00000369271.3	-	15	2116	c.1816C>G	c.(1816-1818)Cct>Gct	p.P606A	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.P606A|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.P659A	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	606					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTCAGGGAAGGATCCTCTGGC	0.607000													35	93					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45433482	45433482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:45433482C>G	ENST00000361462.2	+	1	2041	c.1858C>G	c.(1858-1860)Cag>Gag	p.Q620E	FAM179B_ENST00000382233.2_Missense_Mutation_p.Q620E|FAM179B_ENST00000361577.3_Missense_Mutation_p.Q620E|KLHL28_ENST00000553817.1_Intron			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	620							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TAACAGAACTCAGAGTGCACA	0.498000													44	40					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8999176	8999176	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:8999176C>G	ENST00000344836.4	-	14	1639	c.1441G>C	c.(1441-1443)Gat>Cat	p.D481H	USP7_ENST00000535863.1_Missense_Mutation_p.D382H|USP7_ENST00000381886.4_Missense_Mutation_p.D465H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	481					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACGTCGTCATCAAATTTACAC	0.458000											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	40					0	0	1	0	0
ZNF444	55311	broad.mit.edu	37	19	56669875	56669875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:56669875T>C	ENST00000337080.3	+	4	677	c.310T>C	c.(310-312)Tcc>Ccc	p.S104P	ZNF444_ENST00000592949.1_Missense_Mutation_p.S104P|ZNF444_ENST00000592171.1_3'UTR	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	104	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GCCAGCAGCCTCCCCCGATGG	0.587000													6	21					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110585752	110585752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:110585752G>A	ENST00000369795.3	+	9	950	c.928G>A	c.(928-930)Gag>Aag	p.E310K	STRIP1_ENST00000369796.1_Missense_Mutation_p.E215K	NM_033088.2	NP_149079.2			striatin interacting protein 1																		CATGAAGGCTGAGAAGCGCAG	0.587000													8	16					0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172414284	172414284	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:172414284C>T	ENST00000367727.4	+	2	291	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	31										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CATTAGTGCTCAGCCTTCCCA	0.433000													5	20					0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75937986	75937986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:75937986C>T	ENST00000307428.7	+	2	607	c.395C>T	c.(394-396)gCa>gTa	p.A132V	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	132					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						ACTCCTGAAGCAGGCGTGGCA	0.582000													24	101					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148496405	148496405	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:148496405G>A	ENST00000325222.4	+	21	2454	c.2175G>A	c.(2173-2175)ctG>ctA	p.L725L	CUL1_ENST00000409469.1_Silent_p.L725L|CUL1_ENST00000602748.1_Silent_p.L725L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	725					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGAAGGTTCTGAAACACCAGC	0.458000													10	20					0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54973654	54973654	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:54973654C>T	ENST00000333834.4	-	1	1240	c.1122G>A	c.(1120-1122)ggG>ggA	p.G374G		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	374					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CGGCCTCCTCCCCAGCGCCTG	0.652000													20	54					0	0	1	0	0
MIDN	90007	broad.mit.edu	37	19	1255542	1255542	+	Silent	SNP	G	G	A	rs45524034		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:1255542G>A	ENST00000300952.2	+	7	1493	c.978G>A	c.(976-978)tcG>tcA	p.S326S	MIDN_ENST00000591446.2_Silent_p.S326S	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	326						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCCCTTCGCTGGCCCAGC	0.711000													6	22					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235933543	235933543	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:235933543G>C	ENST00000389794.3	-	20	6013	c.5839C>G	c.(5839-5841)Cac>Gac	p.H1947D	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.H1947D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1947					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCTGGTGGTGATCTGCTCTG	0.388000													10	28					0	0	1	0	0
CCDC85B	11007	broad.mit.edu	37	11	65658862	65658862	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:65658862G>A	ENST00000312579.2	+	1	988	c.608G>A	c.(607-609)tGa>tAa	p.*203*		NM_006848.2	NP_006839.2	Q15834	CC85B_HUMAN	coiled-coil domain containing 85B	0					cell differentiation|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	protein binding								READ - Rectum adenocarcinoma(159;0.166)		CCCGATGATTGAAGGCACTGC	0.711000													3	21					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916103	126916103	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:126916103C>T	ENST00000398112.1	+	2	815	c.575C>T	c.(574-576)tCc>tTc	p.S192F		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		GAATGGGCCTCCAGGTTCGGT	0.627000													11	43					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12976805	12976805	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:12976805G>C	ENST00000251472.4	+	17	1957	c.1918G>C	c.(1918-1920)Gag>Cag	p.E640Q		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	640	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGGCGCTTTTGAGGTGAAGCA	0.632000													10	43					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13659771	13659771	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:13659771G>T	ENST00000404922.3	+	6	2044	c.1925G>T	c.(1924-1926)cGc>cTc	p.R642L	FBLN2_ENST00000295760.7_Missense_Mutation_p.R642L|FBLN2_ENST00000492059.1_Missense_Mutation_p.R642L|FBLN2_ENST00000535798.1_Missense_Mutation_p.R668L	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	642	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GACGATGGCCGCACTTGCCGC	0.617000													17	41					1.99824e-07	2.16387e-07	1	1	0
OR1A2	26189	broad.mit.edu	37	17	3101367	3101367	+	Silent	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:3101367G>C	ENST00000381951.1	+	1	555	c.555G>C	c.(553-555)ctG>ctC	p.L185L		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TGCCTTTGCTGAAGTTGTCCT	0.463000													18	73					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183623957	183623957	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:183623957C>T	ENST00000264065.6	+	21	2483	c.2068C>T	c.(2068-2070)Cat>Tat	p.H690Y		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	690	Thioredoxin 4.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGGGAAAAATCATTGGGTGAT	0.378000													8	24					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152461273	152461273	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:152461273G>A	ENST00000367255.5	-	140	25871	c.25270C>T	c.(25270-25272)Ctc>Ttc	p.L8424F	SYNE1_ENST00000539504.1_Missense_Mutation_p.L579F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L8036F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L8376F|SYNE1_ENST00000354674.4_Missense_Mutation_p.L602F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L8424F|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.L8376F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2948F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8424					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGGCCTGGAGAAGCTCCCAT	0.478000										HNSCC(10;0.0054)			18	49					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57618621	57618621	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:57618621T>C	ENST00000374888.1	+	1	353	c.140T>C	c.(139-141)cTc>cCc	p.L47P		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.L47P(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CTCCTGCTGCTCCGGGGCCCC	0.786000													3	5					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24409086	24409086	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:24409086G>A	ENST00000330966.7	-	17	2254	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.L697L|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Silent_p.L697L			Q5VTT5	MYOM3_HUMAN	myomesin 3	697										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GACTCACCCAGAGCCTGCTTG	0.642000													12	23					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39978896	39978896	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:39978896C>T	ENST00000373257.3	+	7	1052	c.961C>T	c.(961-963)Ctc>Ttc	p.L321F		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	321					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGGTCCCCCTCTCCACACCCC	0.622000													6	20					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55133465	55133465	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:55133465G>A	ENST00000257290.5	+	6	1100	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	257	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAAAGGCAAAGGCATCACAAT	0.443000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			15	29					0	0	1	0	0
C12orf5	57103	broad.mit.edu	37	12	4430449	4430449	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:4430449C>T	ENST00000179259.4	+	1	79	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	4						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			TGGCTCGCTTCGCTCTGACTG	0.647000													27	66					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48325429	48325429	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:48325429G>A	ENST00000376876.3	-	4	1008	c.165C>T	c.(163-165)ttC>ttT	p.F55F	SLC38A5_ENST00000317669.5_Silent_p.F55F|SLC38A5_ENST00000376875.1_Silent_p.F4F			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	55					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						TGCTGAGGTTGAACACTGACA	0.587000											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	11					0	0	1	0	0
HMX3	340784	broad.mit.edu	37	10	124896593	124896593	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:124896593G>A	ENST00000357878.5	+	2	509	c.420G>A	c.(418-420)ctG>ctA	p.L140L		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	140					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AGGCCTTGCTGAGAGACTCCT	0.682000													8	15					0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74683082	74683082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:74683082G>A	ENST00000361070.4	-	4	837	c.740C>T	c.(739-741)tCa>tTa	p.S247L	RFWD3_ENST00000571750.1_Missense_Mutation_p.S247L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	247					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TTGCTCTGCTGAGACACCTGC	0.368000													8	22					0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29691994	29691994	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:29691994G>C	ENST00000440587.2	+	3	384	c.25G>C	c.(25-27)Gac>Cac	p.D9H	HLA-F_ENST00000376861.1_Missense_Mutation_p.D127H|HLA-F_ENST00000259951.7_Missense_Mutation_p.D127H|HLA-F_ENST00000334668.4_Missense_Mutation_p.D127H|HLA-F_ENST00000434407.2_Missense_Mutation_p.D127H			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	127					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CATGGGGCCCGACGGACGCCT	0.692000													11	65					0	0	1	0	0
STX17	55014	broad.mit.edu	37	9	102677524	102677524	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:102677524G>A	ENST00000259400.6	+	2	139	c.3G>A	c.(1-3)atG>atA	p.M1I	STX17_ENST00000534052.1_Start_Codon_SNP_p.M1I|STX17_ENST00000525640.1_Start_Codon_SNP_p.M1I|RP11-60I3.4_ENST00000524512.1_RNA	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	1					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TTTTTAGGATGTCTGAAGATG	0.343000													8	35					0	0	1	0	0
GAS8	2622	broad.mit.edu	37	16	90103732	90103732	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:90103732C>G	ENST00000268699.4	+	7	971	c.849C>G	c.(847-849)ctC>ctG	p.L283L	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.L258L	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	283					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CAGACCCTCTCCAGAAGGCTC	0.587000													7	12					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101766734	101766734	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:101766734C>G	ENST00000261637.4	+	52	7045	c.6871C>G	c.(6871-6873)Caa>Gaa	p.Q2291E		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2291					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATGCTCGCTCAACTGAAGTA	0.413000													9	16					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30724513	30724513	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:30724513C>G	ENST00000361762.2	+	1	2477	c.1469C>G	c.(1468-1470)tCg>tGg	p.S490W	PCDH7_ENST00000543491.1_Missense_Mutation_p.S490W	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	490	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TTGCACACCTCGACCCCTCTG	0.612000													11	34					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	152873564	152873564	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:152873564G>A	ENST00000285900.5	+	2	502	c.159G>A	c.(157-159)ccG>ccA	p.P53P	GRIA1_ENST00000518783.1_Silent_p.P63P|GRIA1_ENST00000518142.1_Silent_p.P53P|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Silent_p.P63P|GRIA1_ENST00000521843.2_5'UTR|GRIA1_ENST00000340592.5_Silent_p.P53P	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	53					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGAGCCCCCGAAGCTGCTCC	0.433000													12	48					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94225476	94225476	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:94225476G>C	ENST00000265986.6	-	20	2501	c.2445C>G	c.(2443-2445)atC>atG	p.I815M	IDE_ENST00000371581.5_Missense_Mutation_p.I260M|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	815					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGGTTCCGAGATAATCTGAC	0.443000													8	28					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80271515	80271515	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:80271515G>C	ENST00000281127.7	+	5	1849	c.970G>C	c.(970-972)Gaa>Caa	p.E324Q	NRXN3_ENST00000335750.5_Missense_Mutation_p.E956Q|NRXN3_ENST00000554719.1_Missense_Mutation_p.E956Q|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.E324Q|NRXN3_ENST00000428277.2_Missense_Mutation_p.E354Q	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	324					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGACTTTGTTGAATGTGAGCC	0.358000													36	39					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151095916	151095916	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:151095916T>A	ENST00000474524.1	+	29	4366	c.4328T>A	c.(4327-4329)tTg>tAg	p.L1443*	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Nonsense_Mutation_p.L1303*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1443					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)			GGACAGCACTTGGGTTCTTCT	0.507000													8	21					0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58076194	58076194	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:58076194C>T	ENST00000219271.3	+	7	2009	c.1224C>T	c.(1222-1224)atC>atT	p.I408I		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	408	Hemopexin-like 1.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CCATGCCCATCGGGCACTTCT	0.612000													12	36					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26366052	26366052	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:26366052C>T	ENST00000522362.2	-	3	1114	c.220G>A	c.(220-222)Gat>Aat	p.D74N		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	74					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gccgagacatcagtatcttcc	0.478000													9	52					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6134769	6134769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:6134769C>T	ENST00000261405.5	-	24	3453	c.3199G>A	c.(3199-3201)Gtc>Atc	p.V1067I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1067	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCTGGAAGACGTCACTGGTA	0.552000													3	11					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27686843	27686843	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:27686843G>C	ENST00000374040.3	-	15	2307	c.2047C>G	c.(2047-2049)Cat>Gat	p.H683D	MAP3K6_ENST00000493901.1_Missense_Mutation_p.H691D|MAP3K6_ENST00000357582.2_Missense_Mutation_p.H691D			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	691	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)		ATCTCTTCATGCAGGGGCTGA	0.617000													6	32					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6744700	6744700	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:6744700G>A	ENST00000600428.1	+	8	1100	c.454G>A	c.(454-456)Gat>Aat	p.D152N	TRIP10_ENST00000313244.9_Missense_Mutation_p.D260N|TRIP10_ENST00000313285.8_Missense_Mutation_p.D260N|TRIP10_ENST00000596758.1_Missense_Mutation_p.D260N			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	260	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	p.D260N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAATGCTGTGGATCCCAAGAA	0.622000													21	57					0	0	1	0	0
NKX3-2	579	broad.mit.edu	37	4	13543912	13543912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:13543912C>T	ENST00000382438.5	-	2	1342	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	236					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CAGGTCTGCGCGCTCGGGCCC	0.652000													4	7					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114499369	114499369	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:114499369C>T	ENST00000369558.1	+	6	1760	c.1528C>T	c.(1528-1530)Cta>Tta	p.L510L	HIPK1_ENST00000369561.4_Silent_p.L510L|HIPK1_ENST00000426820.2_Silent_p.L510L|HIPK1_ENST00000369554.2_Silent_p.L510L|HIPK1_ENST00000369553.1_Silent_p.L116L|HIPK1_ENST00000369559.4_Silent_p.L510L|HIPK1_ENST00000340480.4_Silent_p.L136L|HIPK1_ENST00000406344.1_Silent_p.L116L|HIPK1_ENST00000369555.2_Silent_p.L510L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	510	Protein kinase.				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)		AATTACCCCTCTAAAAACTCT	0.408000													9	34					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128782077	128782077	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:128782077C>T	ENST00000529694.1	+	2	1285	c.909C>T	c.(907-909)gtC>gtT	p.V303V	KCNJ5_ENST00000533599.1_Silent_p.V303V|KCNJ5_ENST00000338350.4_Silent_p.V303V	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	303					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AAGTTGTGGTCATTCTAGAAG	0.517000													23	59					0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137654985	137654985	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:137654985G>A	ENST00000323760.6	-	7	816	c.538C>T	c.(538-540)Cca>Tca	p.P180S	CDC25C_ENST00000415130.2_Missense_Mutation_p.P107S|CDC25C_ENST00000357274.3_Missense_Mutation_p.P137S|CDC25C_ENST00000356505.3_Missense_Mutation_p.P150S|CDC25C_ENST00000348983.3_Missense_Mutation_p.P107S|CDC25C_ENST00000514555.1_Missense_Mutation_p.P150S|CDC25C_ENST00000513970.1_Missense_Mutation_p.P180S	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	180					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTAGGTTTGGATTTTTATCC	0.378000													6	17					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43986078	43986078	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:43986078C>A	ENST00000261488.6	-	5	759	c.182G>T	c.(181-183)gGg>gTg	p.G61V	ENOX1_ENST00000412891.1_Missense_Mutation_p.G61V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	61					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCCAGGCAACCCTACGGGAAC	0.552000													19	26					8.34094e-07	8.93672e-07	1	1	0
IL21	59067	broad.mit.edu	37	4	123541999	123541999	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:123541999C>A	ENST00000264497.3	-	1	225	c.168_splice	c.e1+1	p.L56_splice	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	49					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						ATAGTCTTACCAAGTCATTCA	0.313000													13	20					1.5842e-08	1.72938e-08	1	1	0
NEURL1	9148	broad.mit.edu	37	10	105331513	105331513	+	Missense_Mutation	SNP	C	C	T	rs144450414		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:105331513C>T	ENST00000369780.4	+	3	992	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	NEURL_ENST00000465048.1_3'UTR|NEURL_ENST00000369777.2_Missense_Mutation_p.R178C	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		195	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CAGCGGGGTCCGCACGGCCGA	0.652000													17	48					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364075	5364075	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:5364075G>T	ENST00000300773.2	-	1	734	c.680C>A	c.(679-681)gCc>gAc	p.A227D	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTCTGGAGGCAATGCTCAG	0.443000													12	39					0.00010058	0.000105258	1	1	0
ZNF492	57615	broad.mit.edu	37	19	22836775	22836775	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:22836775C>A	ENST00000456783.2	+	3	332	c.88C>A	c.(88-90)Cct>Act	p.P30T		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P30S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGGAAAAGAACCTTGGAATGT	0.423000													11	40					2.27111e-07	2.4528e-07	1	1	0
LRP4	4038	broad.mit.edu	37	11	46920136	46920136	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:46920136C>G	ENST00000378623.1	-	7	1011	c.769G>C	c.(769-771)Gat>Cat	p.D257H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	257	LDL-receptor class A 6.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GACTGGTCATCACAGTCCGCG	0.577000													36	98					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2700874	2700874	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:2700874G>T	ENST00000320876.6	+	12	1943	c.1605G>T	c.(1603-1605)ttG>ttT	p.L535F	SMCHD1_ENST00000261598.8_Missense_Mutation_p.L535F|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	535					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGCTAAAATTGAAAGATAAGA	0.279000													6	19					0.0215528	0.0219871	1	1	0
KMT2B	9757	broad.mit.edu	37	19	36210688	36210688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:36210688C>T	ENST00000222270.7	+	3	439	c.439C>T	c.(439-441)Cga>Tga	p.R147*	WBP7_ENST00000341701.1_Nonsense_Mutation_p.R147*|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Nonsense_Mutation_p.R147*	NM_014727.1	NP_055542.1												p.R147*(1)									CCTTTTAGGTCGAGCGCCCCG	0.597000													25	96					0	0	1	0	0
TCEAL5	340543	broad.mit.edu	37	X	102528878	102528878	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:102528878T>G	ENST00000372680.1	-	3	908	c.614A>C	c.(613-615)tAt>tCt	p.Y205S		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						acattaaacatATGGGACATC	0.502000													21	38					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42343842	42343842	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:42343842C>G	ENST00000217026.4	+	13	2020	c.1893C>G	c.(1891-1893)ctC>ctG	p.L631L	MYBL2_ENST00000396863.4_Silent_p.L607L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	631						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACAGCTTGCTCAACCAGGGCT	0.562000													58	156					0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257470	41257470	+	Missense_Mutation	SNP	C	C	G	rs145804206	by1000genomes	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:41257470C>G	ENST00000307221.4	-	1	660	c.529G>C	c.(529-531)Gat>Cat	p.D177H	XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	177					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CCACTATTATCAAAAGCCAGG	0.333000													12	36					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413639	72413639	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:72413639C>G	ENST00000395270.1	+	14	3353	c.2312C>G	c.(2311-2313)tCg>tGg	p.S771W	POM121_ENST00000358357.3_Missense_Mutation_p.S771W|POM121_ENST00000434423.2_Missense_Mutation_p.S1036W|POM121_ENST00000257622.4_Missense_Mutation_p.S771W|POM121_ENST00000446813.1_Missense_Mutation_p.S771W	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1036	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCACGCACTCGGCGTTTGGG	0.652000													21	62					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21592355	21592355	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:21592355C>G	ENST00000298925.5	+	19	2263	c.2110C>G	c.(2110-2112)Cca>Gca	p.P704A	NELL1_ENST00000325319.5_Missense_Mutation_p.P619A|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.P676A|NELL1_ENST00000532434.1_Missense_Mutation_p.P629A			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	676	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTGCCAGAATCCAAGTGCTGA	0.433000													15	43					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725483	41725483	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr21:41725483C>G	ENST00000400454.1	-	5	1320	c.843G>C	c.(841-843)gaG>gaC	p.E281D		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	281	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCGAATGTTCTCAATGAGCA	0.557000													14	52					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150463905	150463905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:150463905G>A	ENST00000369064.3	+	5	582	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	TARS2_ENST00000369054.2_Missense_Mutation_p.R183Q|TARS2_ENST00000438568.2_Silent_p.A141A|TARS2_ENST00000606933.1_Missense_Mutation_p.R183Q	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	183					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GTTTTGGAGCGGATTTGCCAG	0.562000													16	59					0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74678518	74678518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:74678518G>A	ENST00000361070.4	-	5	1005	c.908C>T	c.(907-909)tCa>tTa	p.S303L	RFWD3_ENST00000571750.1_Missense_Mutation_p.S303L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	303					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCGTAATGCTGAGAGCCGGTG	0.502000													7	37					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107626633	107626633	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:107626633G>C	ENST00000393561.1	-	4	855	c.671C>G	c.(670-672)tCa>tGa	p.S224*	LAMB1_ENST00000222399.6_Nonsense_Mutation_p.S200*|LAMB1_ENST00000393560.1_Nonsense_Mutation_p.S200*			P07942	LAMB1_HUMAN	laminin, beta 1	200	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTTCAGTTGAGGGTTCAAT	0.383000													11	32					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196837116	196837116	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:196837116G>A	ENST00000312428.6	-	16	2008	c.1908C>T	c.(1906-1908)ctC>ctT	p.L636L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	636	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGAGGAAGGCGAGGCAGTTTT	0.398000													11	40					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900809	40900809	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:40900809G>A	ENST00000324001.7	-	7	3720	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1150	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGCAGGGAGATGCCCAGCG	0.652000													26	56					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70209304	70209304	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:70209304C>T	ENST00000269503.4	-	3	865	c.92G>A	c.(91-93)tGc>tAc	p.C31Y	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.C31Y|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	31						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CACCCCCAGGCAGGATCCGCA	0.766000													6	20					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63073370	63073370	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:63073370G>C	ENST00000561311.1	+	43	5776	c.5546G>C	c.(5545-5547)gGa>gCa	p.G1849A	TLN2_ENST00000472902.1_Missense_Mutation_p.G242A|TLN2_ENST00000306829.6_Missense_Mutation_p.G1849A			Q9Y4G6	TLN2_HUMAN	talin 2	1849					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAACCAAAGGGAACATTTGTC	0.478000													8	29					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41000406	41000406	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:41000406C>A	ENST00000399564.4	-	39	4848	c.4398G>T	c.(4396-4398)caG>caT	p.Q1466H	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q1021H	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CATAGAGCTCCTGGAGGCCCA	0.488000													10	17					7.48243e-07	8.03815e-07	1	1	0
KIAA2026	158358	broad.mit.edu	37	9	5924783	5924783	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:5924783C>T	ENST00000399933.3	-	7	2560	c.2561G>A	c.(2560-2562)aGa>aAa	p.R854K	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R824K	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	854										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)		CCATAGTTCTCTATTAAATGT	0.373000													6	26					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77378330	77378330	+	Splice_Site	SNP	A	A	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:77378330A>C	ENST00000373316.4	+	7	808		c.e7-1		PGK1_ENST00000442431.1_Splice_Site|PGK1_ENST00000537456.1_Splice_Site	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TTTCTCTTGTAGAGCTAAAGT	0.378000													14	23					0	0	1	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94343367	94343367	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:94343367C>G	ENST00000436063.2	-	2	181	c.124G>C	c.(124-126)Gat>Cat	p.D42H	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GTTCGGGCATCAGATCCAGTA	0.453000													7	11					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98392664	98392664	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:98392664C>T	ENST00000371109.3	-	1	334	c.153G>A	c.(151-153)aaG>aaA	p.K51K	PIK3AP1_ENST00000339364.5_Intron|PIK3AP1_ENST00000371110.2_Intron|PIK3AP1_ENST00000468783.1_Intron			Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	449						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ctgggacatgcttggcaccag	0.478000													10	28					0	0	1	0	0
TBCE	6905	broad.mit.edu	37	1	235599721	235599721	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:235599721C>G	ENST00000543662.1	+	11	1113	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.S285C|TBCE_ENST00000366601.3_Missense_Mutation_p.S285C			Q15813	TBCE_HUMAN	tubulin folding cofactor E	285					'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)			TTAATCCTCTCTGACACTGGA	0.373000													6	19					0	0	1	0	0
SBDS	51119	broad.mit.edu	37	7	66459213	66459213	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:66459213C>G	ENST00000246868.2	-	2	427	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	82					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TTACAGATTTCAGTTTGGTCA	0.383000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				12	39					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149818561	149818561	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:149818561G>C	ENST00000435030.1	+	11	1413	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	KIF5C_ENST00000414838.2_Missense_Mutation_p.E254Q|KIF5C_ENST00000397413.1_Missense_Mutation_p.E117Q|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	349	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATATGAAAAAGAGAAAGAGAA	0.398000													4	16					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62207862	62207862	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:62207862G>C	ENST00000261517.5	-	61	8488	c.8415C>G	c.(8413-8415)ttC>ttG	p.F2805L	VPS13C_ENST00000249837.3_Missense_Mutation_p.F2762L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2805L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F2762L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2805					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTTCTTCTTGAAAGAAAATA	0.323000													4	14					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990433	63990433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:63990433C>T	ENST00000370658.5	-	5	635	c.602G>A	c.(601-603)gGa>gAa	p.G201E	LGSN_ENST00000370657.4_Silent_p.G341G	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	0					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.G341G(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACCATTTTTTCCCAGTGATCG	0.488000													13	53					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187842	121187842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:121187842G>A	ENST00000321339.1	+	1	193	c.184G>A	c.(184-186)Gcc>Acc	p.A62T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	62					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TACCGGGCCCGCCGCCGGCCC	0.736000													8	19					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35563106	35563106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:35563106G>A	ENST00000373330.1	+	5	532	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.E120K			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	120						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGCATCACTGAATACATTTC	0.398000													12	47					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118509672	118509672	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:118509672G>A	ENST00000361417.2	+	12	3010	c.2599G>A	c.(2599-2601)Gaa>Aaa	p.E867K	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E867K|PHLDB1_ENST00000527898.1_5'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	867										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCAGGAATCAGAACGCCTGGC	0.622000													7	22					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67292604	67292604	+	Silent	SNP	A	A	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:67292604A>T	ENST00000371026.3	-	15	2293	c.2238T>A	c.(2236-2238)gcT>gcA	p.A746A	WDR78_ENST00000431318.1_Silent_p.A459A	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	746										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CAACAGAAGTAGCTGGATAAA	0.398000													18	39					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164741468	164741468	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:164741468C>T	ENST00000264382.3	-	26	3051	c.2989G>A	c.(2989-2991)Gct>Act	p.A997T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	997	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGGAGGTCAGCTGTTATACCC	0.403000										HNSCC(35;0.089)			8	29					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38886310	38886310	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:38886310A>G	ENST00000502536.1	+	7	1291	c.1009A>G	c.(1009-1011)Aca>Gca	p.T337A	OSMR_ENST00000274276.3_Intron	NM_001168355.1	NP_001161827.1	Q99650	OSMR_HUMAN	oncostatin M receptor	0	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TAGAGTTGTCACAGCCCACCG	0.423000													11	38					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91461609	91461609	+	Silent	SNP	C	C	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:91461609C>G	ENST00000360468.3	+	20	3198	c.3180C>G	c.(3178-3180)ctC>ctG	p.L1060L	MAN2A2_ENST00000430376.2_Silent_p.L250L|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000559717.1_Silent_p.L1060L|MAN2A2_ENST00000431652.2_Silent_p.L568L	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1060					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TACGTACGCTCCAGGCTGAGG	0.592000													19	43					0	0	1	0	0
C1QL1	10882	broad.mit.edu	37	17	43037675	43037675	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:43037675C>T	ENST00000253407.3	-	2	680	c.658G>A	c.(658-660)Gtg>Atg	p.V220M		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	220	C1q.				locomotory behavior	collagen				lung(1)|prostate(1)	2		Prostate(33;0.155)				TGCAGGATCACGCTGTTGCTG	0.622000													22	43					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128480908	128480908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:128480908G>A	ENST00000322313.4	-	12	1368	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	404					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCGGTTTCGAGTCCAGAAT	0.388000													13	23					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285800	16285800	+	Silent	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:16285800G>A	ENST00000302182.3	+	2	971	c.579G>A	c.(577-579)caG>caA	p.Q193Q	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.Q193Q|UBB_ENST00000395839.1_Silent_p.Q193Q|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.Q117Q	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	193	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CCGACCAGCAGAGGCTCATCT	0.562000													15	47					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7046408	7046408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:7046408G>A	ENST00000356654.4	+	5	2215	c.1978G>A	c.(1978-1980)Ggg>Agg	p.G660R	ATN1_ENST00000396684.2_Missense_Mutation_p.G660R	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	660					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ATACAAACCCGGGTCGCCTCC	0.697000													9	16					0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33549576	33549576	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:33549576G>A	ENST00000294517.6	+	5	714	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	ADC_ENST00000373443.3_Missense_Mutation_p.V43M|ADC_ENST00000398167.1_Missense_Mutation_p.V43M|ADC_ENST00000358680.3_Missense_Mutation_p.V43M|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373440.1_Missense_Mutation_p.V43M|ADC_ENST00000373441.1_Missense_Mutation_p.V43M	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	43					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TGCCTTCTTCGTGGCTGACCT	0.547000													17	30					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456148	5456148	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:5456148G>A	ENST00000222033.4	+	1	723	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	216	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTTCGTGAGCGAGGCCGCCTC	0.667000													21	83					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136561591	136561591	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:136561591C>T	ENST00000264162.2	-	11	4582	c.4572G>A	c.(4570-4572)caG>caA	p.Q1524Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1524	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCCCAGCCTCTGGAAGAGCA	0.527000													12	40					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167138190	167138190	+	Splice_Site	SNP	T	T	G			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:167138190T>G	ENST00000303354.6	-	13	2446	c.2107_splice	c.e13+1	p.E702_splice	SCN9A_ENST00000375387.4_Splice_Site_p.E702_splice|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Splice_Site_p.E690_splice|SCN9A_ENST00000409435.1_Splice_Site_p.E701_splice			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	701						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATTACATACCTTCCACAGTGT	0.353000													10	25					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775313	24775313	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:24775313G>A	ENST00000221166.5	+	3	2727	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	NEFM_ENST00000521540.1_Intron|NEFM_ENST00000437366.2_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E273K|NEFM_ENST00000518131.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	649	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTCACCAGTGGAAGAGAAAGG	0.502000													18	76					0	0	1	0	0
PLA2G5	5322	broad.mit.edu	37	1	20417104	20417104	+	Silent	SNP	G	G	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:20417104G>T	ENST00000375108.3	+	5	604	c.336G>T	c.(334-336)cgG>cgT	p.R112R	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	112					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CCTGTGACCGGAAGCTCGTCT	0.567000													24	59					1.10513e-12	1.233e-12	1	1	0
LRP8	7804	broad.mit.edu	37	1	53736707	53736707	+	Silent	SNP	C	C	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:53736707C>T	ENST00000306052.6	-	8	1346	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	LRP8_ENST00000465675.1_Intron|LRP8_ENST00000347547.2_Silent_p.K245K|LRP8_ENST00000354412.3_Silent_p.K286K|LRP8_ENST00000371454.2_Silent_p.K415K	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	415	EGF-like 2; calcium-binding (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TACCAGCAGCCTTGCAGTTCT	0.542000													16	52					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768178	31768178	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:31768178C>A	ENST00000240587.4	-	2	2848	c.2521G>T	c.(2521-2523)Gag>Tag	p.E841*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	841					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AAGGCATTCTCGCGTAGCGGC	0.522000													19	65					1.55795e-14	1.74783e-14	1	1	0
SI	6476	broad.mit.edu	37	3	164733747	164733753	+	Frame_Shift_Del	DEL	ATAATGT	ATAATGT	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:164733747_164733753delATAATGT	ENST00000264382.3	-	32	3937_3943	c.3875_3881delACATTAT	c.(3874-3882)ttfs	p.YII1292fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1292	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GACCAGGATAATAATGTATCTCATTCC	0.386										HNSCC(35;0.089)			9	31	---	---	---	---					
TAPT1-AS1	202020	broad.mit.edu	37	4	16257859	16257860	+	RNA	INS	-	-	T	rs146274448		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:16257859_16257860insT	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1																						GAGGGTTTGTCTTTTTTTTTTT	0.381													2	4	---	---	---	---					
RBAK	57786	broad.mit.edu	37	7	5105180	5105180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:5105180delA	ENST00000396912.1	+	5	2612	c.2093delA	c.(2092-2094)cgfs	p.Q698fs	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Frame_Shift_Del_p.Q698fs	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	698	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)		AATAGCCATCAGAGAATTCAT	0.368													13	31	---	---	---	---					
OCM2	4951	broad.mit.edu	37	7	97619416	97619416	+	Translation_Start_Site	DEL	T	T	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:97619416delT	ENST00000257627.4	-	0	92				OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2								calcium ion binding			lung(4)	4						GTGATGCTCATTTTCTACCTA	0.542													9	29	---	---	---	---					
WRN	7486	broad.mit.edu	37	8	30924631	30924631	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:30924631delG	ENST00000298139.5	+	6	836	c.587delG	c.(586-588)ccfs	p.R196fs		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	196	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAGTCTATCCGCTGTAGCAAT	0.413			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				8	13	---	---	---	---					
GPSM1	26086	broad.mit.edu	37	9	139235482	139235482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:139235482delC	ENST00000392945.3	+	9	1459	c.1239delC	c.(1237-1239)ctfs	p.L413fs	GPSM1_ENST00000440944.1_Intron	NM_015597.4	NP_056412.4	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	0	Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGTCTTGCTCCCCACAGGCA	0.687													3	6	---	---	---	---					
TRIM51HP	440041	broad.mit.edu	37	11	55063079	55063079	+	RNA	DEL	C	C	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:55063079delC	ENST00000526016.1	-	0	558					NR_038174.2																						CACAGCCTCTCCAAATGTTGT	0.413													7	22	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23450571	23450571	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:23450571delG	ENST00000262713.2	-	1	1280	c.905delC	c.(904-906)tgfs	p.S302fs	AJUBA_ENST00000361265.4_Frame_Shift_Del_p.S302fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	302	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CTCAATCCCCGAGGGTTCTCC	0.701													38	22	---	---	---	---					
NLRC3	197358	broad.mit.edu	37	16	3594162	3594163	+	RNA	INS	-	-	A	rs60164526		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:3594162_3594163insA	ENST00000301749.7	-	0	3261				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ttgtctcgaggaaaaaaaaaaa	0.490													2	4	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44248524	44248525	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:44248524_44248525delAA	ENST00000262419.6	-	2	1455_1456	c.985_986delTT	c.(985-987)gfs	p.L329fs	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.L329fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.L329fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.L329fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.L329fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	329						MLL1 complex	protein binding										CAGTTTGCTCAAAGTCTTCTCC	0.510													19	105	---	---	---	---					
ARAF	369	broad.mit.edu	37	X	47422420	47422420	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:47422420delG	ENST00000377045.4	+	2	248	c.54delG	c.(52-54)gtfs	p.V18fs	ARAF_ENST00000377039.2_Frame_Shift_Del_p.V18fs|ARAF_ENST00000290277.6_Frame_Shift_Del_p.V18fs	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	18					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCCGGGCAGTGGGCACCGTCA	0.612											OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
CXXC1P1	392459	broad.mit.edu	37	X	47578328	47578329	+	RNA	INS	-	-	T			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:47578328_47578329insT	ENST00000483225.1	+	0	195					NR_033924.1																						CAAAGCTGCCGTTTTTTTGTGT	0.495													2	4	---	---	---	---					
