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
TTC30A	92104	broad.mit.edu	37	2	178482760	178482760	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:178482760C>G	ENST00000355689.4	-	1	934	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	224					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ACACCTAGCTCAGGATGCTGG	0.522000													30	71					0	0	0.717897	0	0
MFSD6L	162387	broad.mit.edu	37	17	8700928	8700928	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8700928C>T	ENST00000329805.4	-	1	1739	c.1511G>A	c.(1510-1512)tGt>tAt	p.C504Y		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	504						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCCCAGGCTACAGCCACTCCC	0.632000													18	28					0	0	0.575678	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18162426	18162426	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:18162426G>C	ENST00000278816.2	+	8	2394	c.1744G>C	c.(1744-1746)Gat>Cat	p.D582H	CSRP2BP_ENST00000377681.2_Missense_Mutation_p.D581H|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.D454H|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.D582H			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	582					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGGATCAGAAGATATGGCTGT	0.443000													57	117					0	0	0.870114	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242048	87242048	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:87242048C>G	ENST00000297524.3	-	1	562	c.459G>C	c.(457-459)gtG>gtC	p.V153V	SLC7A13_ENST00000419776.2_Silent_p.V153V|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	153						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCACTTCTTTCACACCACGAG	0.453000													28	114					0	0	0.706142	0	0
MCM5	4174	broad.mit.edu	37	22	35817335	35817335	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:35817335C>T	ENST00000216122.4	+	15	2011	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	MCM5_ENST00000382011.5_Silent_p.I576I	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	619					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTGTGCGCATCGCGGAAGCCC	0.637000													30	73					0	0	0.706142	0	0
GMEB2	26205	broad.mit.edu	37	20	62234366	62234366	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:62234366G>T	ENST00000266068.1	-	3	787	c.309C>A	c.(307-309)ctC>ctA	p.L103L	GMEB2_ENST00000370077.1_Silent_p.L103L|GMEB2_ENST00000370069.1_Silent_p.L52L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	103	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TCCTCCAGATGAGGTTGGCTC	0.537000													7	212					0.00198382	0.00202156	0.248553	1	0
CCT7	10574	broad.mit.edu	37	2	73470151	73470151	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:73470151C>G	ENST00000539919.1	+	5	526	c.155C>G	c.(154-156)tCa>tGa	p.S52*	CCT7_ENST00000398422.2_Intron|CCT7_ENST00000258091.5_Nonsense_Mutation_p.S96*|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Nonsense_Mutation_p.S9*|CCT7_ENST00000537131.1_Intron|CCT7_ENST00000538797.1_5'UTR	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	96					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GGCACCACCTCAGTGACCTTG	0.502000													24	74					0	0	0.667858	0	0
ZNF471	57573	broad.mit.edu	37	19	57027752	57027752	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:57027752C>G	ENST00000308031.5	+	3	275	c.142C>G	c.(142-144)Cag>Gag	p.Q48E	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.Q48E	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GGAGAACTATCAGAGCCTGGT	0.373000													44	147					0	0	0.870114	0	0
CATSPER3	347732	broad.mit.edu	37	5	134344589	134344589	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:134344589G>T	ENST00000282611.6	+	5	820	c.734G>T	c.(733-735)cGg>cTg	p.R245L		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	245					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTTTGAGCCGGGCATTCACC	0.532000													32	92					3.80469e-20	4.05834e-20	0.740014	1	0
GRM3	2913	broad.mit.edu	37	7	86468291	86468291	+	Silent	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:86468291A>T	ENST00000361669.2	+	4	2560	c.1461A>T	c.(1459-1461)gcA>gcT	p.A487A	GRM3_ENST00000546348.1_Silent_p.A79A|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.A359A	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	487					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTCACTGGGCAGAAACCTTAT	0.468000													21	51					0	0	0.575678	0	0
ERBB3	2065	broad.mit.edu	37	12	56495416	56495416	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:56495416G>C	ENST00000267101.3	+	28	4046	c.3606G>C	c.(3604-3606)cgG>cgC	p.R1202R	ERBB3_ENST00000553131.1_Silent_p.R443R|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000450146.2_Silent_p.R559R|ERBB3_ENST00000549832.1_Silent_p.R322R|ERBB3_ENST00000415288.2_Silent_p.R1143R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1202					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACATGAACCGGAGGAGAAGGC	0.542000													37	87					0	0	0.788014	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068542	103068542	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:103068542C>T	ENST00000264260.2	+	12	2290	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	IL18RAP_ENST00000409369.1_Silent_p.F425F	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	567					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTCAGGGATTCACGTGGAACC	0.478000													35	209					0	0	0.779181	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18655767	18655767	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18655767C>G	ENST00000336349.5	-	1	273	c.38G>C	c.(37-39)gGa>gCa	p.G13A	SPTY2D1_ENST00000543776.1_Intron	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	13										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GACACCTTGTCCCTTGGAAGC	0.547000													72	269					0	0	0.870114	0	0
SCAND3	114821	broad.mit.edu	37	6	28541483	28541483	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:28541483C>G	ENST00000452236.2	-	4	2800	c.2183G>C	c.(2182-2184)aGa>aCa	p.R728T		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	728					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agcatgaactcttttggtttt	0.323000													28	30					0	0	0.729181	0	0
FAIM3	9214	broad.mit.edu	37	1	207087216	207087216	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:207087216G>C	ENST00000367091.3	-	2	404	c.261C>G	c.(259-261)ttC>ttG	p.F87L	FAIM3_ENST00000420007.2_Missense_Mutation_p.F87L|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	87	Ig-like.				anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CCTCCACTAGGAACAGATTCT	0.522000													6	181					0	0	0.217242	0	0
SLC6A5	9152	broad.mit.edu	37	11	20658825	20658825	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:20658825C>G	ENST00000525748.1	+	12	2118	c.1845C>G	c.(1843-1845)atC>atG	p.I615M	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	615					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTTTCTTCATCATGGGTTTTC	0.532000													32	85					0	0	0.788014	0	0
FLG	2312	broad.mit.edu	37	1	152286936	152286936	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152286936C>G	ENST00000368799.1	-	3	461	c.426G>C	c.(424-426)aaG>aaC	p.K142N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	142					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)			CTCTTGGGCTCTTGGATCTTC	0.348000									Ichthyosis				88	208					0	0	0.870114	0	0
NLGN1	22871	broad.mit.edu	37	3	173998755	173998755	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:173998755T>C	ENST00000457714.1	+	7	2563	c.2134T>C	c.(2134-2136)Tgc>Cgc	p.C712R	NLGN1_ENST00000401917.3_Missense_Mutation_p.C752R|NLGN1_ENST00000361589.4_Missense_Mutation_p.C712R|NLGN1_ENST00000545397.1_Missense_Mutation_p.C712R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	729					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCACAGGAGATGCAGCCCTCA	0.453000													83	72					0	0	0.870114	0	0
RGL3	57139	broad.mit.edu	37	19	11515837	11515837	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:11515837C>G	ENST00000380456.3	-	9	1234	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	RGL3_ENST00000393423.3_Missense_Mutation_p.E391Q	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	391	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AAAAGAATCTCTCTGCTGCTG	0.547000													9	261					0	0	0.387290	0	0
ZNF106	64397	broad.mit.edu	37	15	42742378	42742378	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:42742378C>T	ENST00000263805.4	-	2	2349	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TGTGCATCTTCTAGAGAGGTT	0.413000													6	273					0	0	0.217242	0	0
SUSD1	64420	broad.mit.edu	37	9	114886646	114886646	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:114886646G>A	ENST00000374270.3	-	6	949	c.777C>T	c.(775-777)ggC>ggT	p.G259G	SUSD1_ENST00000374263.3_Silent_p.G259G|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374264.2_Silent_p.G259G	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	259	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GAGCCACACCGCCCAGCCTGG	0.517000													19	69					0	0	0.812448	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594629	61594629	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:61594629C>T	ENST00000370349.3	+	7	819	c.615C>T	c.(613-615)ctC>ctT	p.L205L	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.L211L			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	211					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCAGATCTCATCCTGGCCT	0.622000													7	45					0	0	0.248553	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470020	161470020	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:161470020C>G	ENST00000392142.4	+	3	864	c.716C>G	c.(715-717)tCa>tGa	p.S239*	MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.S239*|MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.S239*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.S239*	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	239					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACCTCAGTCTCAAAGAAAAAA	0.433000													21	70					0	0	0.575678	0	0
NLRP11	204801	broad.mit.edu	37	19	56303801	56303801	+	Missense_Mutation	SNP	G	G	C	rs114762114	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56303801G>C	ENST00000443188.1	-	9	3089	c.2379C>G	c.(2377-2379)agC>agG	p.S793R	NLRP11_ENST00000360133.3_Missense_Mutation_p.S739R|NLRP11_ENST00000592953.1_Missense_Mutation_p.S694R|NLRP11_ENST00000589093.1_Missense_Mutation_p.S793R|NLRP11_ENST00000589824.2_Missense_Mutation_p.S739R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	793							ATP binding	p.S793S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTCCAAGGGCGCTGCAGCAAT	0.493000													35	101					0	0	0.796494	0	0
TDRD6	221400	broad.mit.edu	37	6	46657053	46657053	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:46657053G>A	ENST00000544460.1	+	1	1442	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	TDRD6_ENST00000316081.6_Silent_p.L396L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	396					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCGGTGACCTGAAGACACTGA	0.478000													66	107					0	0	0.870114	0	0
IFT80	57560	broad.mit.edu	37	3	160000298	160000298	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:160000298C>G	ENST00000326448.7	-	14	1916	c.1484G>C	c.(1483-1485)cGa>cCa	p.R495P	IFT80_ENST00000496589.1_Missense_Mutation_p.R358P|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R666P|IFT80_ENST00000483465.1_Missense_Mutation_p.R358P	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	495						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTCCCAAATCGTTTCACAGA	0.269000													8	90					0	0	0.335167	0	0
TCTN1	79600	broad.mit.edu	37	12	111082789	111082789	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:111082789C>T	ENST00000551590.1	+	12	1505	c.1349C>T	c.(1348-1350)cCg>cTg	p.P450L	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Missense_Mutation_p.P436L|TCTN1_ENST00000377654.3_Silent_p.P196P|TCTN1_ENST00000397659.4_Missense_Mutation_p.P450L			Q2MV58	TECT1_HUMAN	tectonic family member 1	450					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						GGAGCTCTCCCGTGTCAGCTC	0.517000													46	147					0	0	0.870114	0	0
ACADSB	36	broad.mit.edu	37	10	124800176	124800176	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:124800176C>G	ENST00000358776.4	+	4	512	c.498C>G	c.(496-498)ctC>ctG	p.L166L	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Silent_p.L64L	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	166					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	TGCCTCAGCTCACTACAGAAA	0.358000													58	51					0	0	0.870114	0	0
KIF17	57576	broad.mit.edu	37	1	21031010	21031010	+	Silent	SNP	G	G	A	rs76507805	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:21031010G>A	ENST00000247986.2	-	5	1363	c.1053C>T	c.(1051-1053)cgC>cgT	p.R351R	KIF17_ENST00000400463.3_Silent_p.R351R|KIF17_ENST00000375044.1_Silent_p.R251R			Q9P2E2	KIF17_HUMAN	kinesin family member 17	351					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCTGGTACTCGCGAAGCAGCG	0.602000													15	65					0	0	0.457914	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968002	64968002	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:64968002G>C	ENST00000399262.2	-	10	3645	c.3427C>G	c.(3427-3429)Ctt>Gtt	p.L1143V	JMJD1C_ENST00000402544.1_Missense_Mutation_p.L924V|JMJD1C_ENST00000542921.1_Missense_Mutation_p.L961V|JMJD1C_ENST00000399251.1_Missense_Mutation_p.L924V	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1143					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCTTTGAAAGAGATGTTATA	0.408000													8	319					0	0	0.307466	0	0
MYH10	4628	broad.mit.edu	37	17	8449949	8449949	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8449949C>T	ENST00000360416.3	-	12	1329	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	MYH10_ENST00000269243.4_Missense_Mutation_p.M387I|MYH10_ENST00000396239.1_Missense_Mutation_p.M387I|MYH10_ENST00000379980.4_Missense_Mutation_p.M403I	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	387	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCATCACATTCATCCCAAGAA	0.428000													25	62					0	0	0.667858	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959027	10959027	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10959027G>C	ENST00000240615.2	-	1	865	c.553C>G	c.(553-555)Ctc>Gtc	p.L185V		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	185					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGGTTAAAGAGAGTCAAGGGT	0.323000													19	82					0	0	0.557998	0	0
STARD4	134429	broad.mit.edu	37	5	110836745	110836745	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:110836745C>G	ENST00000296632.3	-	5	486	c.352G>C	c.(352-354)Gat>Cat	p.D118H	STARD4_ENST00000512160.1_Intron|STARD4_ENST00000511569.1_5'UTR|STARD4_ENST00000509887.1_3'UTR|STARD4_ENST00000502322.1_Missense_Mutation_p.D118H	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	118	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TAGGAGAAATCAACAAATTCT	0.338000													56	224					0	0	0.870114	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884327	38884327	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:38884327G>C	ENST00000339659.3	+	11	3228	c.1758G>C	c.(1756-1758)caG>caC	p.Q586H	DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q367H|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.Q595H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	595					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCCCTCAACAGAATGCATTGC	0.502000													22	59					0	0	0.608945	0	0
ZNF594	84622	broad.mit.edu	37	17	5086386	5086386	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:5086386G>C	ENST00000399604.4	-	1	1306	c.1166C>G	c.(1165-1167)tCa>tGa	p.S389*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.S389*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GATGAGGTCTGAGGTGCCCTG	0.438000													162	408					0	0	0.870114	0	0
LOC101929735	101929735	broad.mit.edu	37	14	22935483	22935483	+	RNA	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:22935483C>G	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA																							GACACTGATTCTCTGGCCTGG	0.438000													31	23					0	0	0.796494	0	0
NDC1	55706	broad.mit.edu	37	1	54269611	54269611	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:54269611G>C	ENST00000371429.3	-	10	1654	c.1056C>G	c.(1054-1056)ctC>ctG	p.L352L	NDC1_ENST00000537333.1_Silent_p.L17L|NDC1_ENST00000540001.1_Silent_p.L352L|NDC1_ENST00000234725.8_Silent_p.L237L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		CTGGTTGGCTGAGGCTGAAAA	0.408000													98	424					0	0	0.870114	0	0
COQ7	10229	broad.mit.edu	37	16	19087180	19087180	+	Nonsense_Mutation	SNP	C	C	T	rs150852870		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:19087180C>T	ENST00000321998.5	+	4	571	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	COQ7_ENST00000568985.1_Nonsense_Mutation_p.Q169*|COQ7_ENST00000544894.2_Nonsense_Mutation_p.Q131*|COQ7_ENST00000569127.1_Nonsense_Mutation_p.Q146*	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	169	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						GGAACTTCTTCAGGTATTTAT	0.488000													19	66					0	0	0.624587	0	0
GRM3	2913	broad.mit.edu	37	7	86468181	86468181	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:86468181G>C	ENST00000361669.2	+	4	2450	c.1351G>C	c.(1351-1353)Gat>Cat	p.D451H	GRM3_ENST00000546348.1_Missense_Mutation_p.D43H|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.D323H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	451					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TAAAGATGCAGATAGCATAGT	0.358000													5	34					0	0	0.248553	0	0
ESX1	80712	broad.mit.edu	37	X	103499187	103499187	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:103499187C>G	ENST00000372588.4	-	2	237	c.154G>C	c.(154-156)Gag>Cag	p.E52Q		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	52					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GTTCCGTACTCAGGTTTGGAC	0.587000													119	130					0	0	0.870114	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528107	6528107	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:6528107C>T	ENST00000377748.1	-	21	3517	c.3020G>A	c.(3019-3021)cGa>cAa	p.R1007Q	PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R986Q|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R1009Q|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R967Q|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R999Q|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000377725.1_Intron|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000544978.1_Intron	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	986					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGGGGCCCCTCGGCAATCCCA	0.697000													4	10					0	0	0.150653	0	0
NOTCH1	4851	broad.mit.edu	37	9	139417620	139417620	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:139417620C>G	ENST00000277541.6	-	4	499	c.424G>C	c.(424-426)Gac>Cac	p.D142H	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	142	EGF-like 4.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGCACGGGTCAGCCTGCTGG	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	12					0	0	0.248553	0	0
RNF25	64320	broad.mit.edu	37	2	219529908	219529908	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:219529908C>G	ENST00000295704.2	-	8	1076	c.636G>C	c.(634-636)ctG>ctC	p.L212L		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	212					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCTGCTTTCAGTGAGGCAA	0.478000													32	71					0	0	0.796494	0	0
TBKBP1	9755	broad.mit.edu	37	17	45787869	45787869	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45787869G>C	ENST00000361722.3	+	9	2574	c.1725G>C	c.(1723-1725)ctG>ctC	p.L575L		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	575					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GACAGTTGCTGATGGAGACGG	0.632000													17	52					0	0	0.520397	0	0
ABCA13	154664	broad.mit.edu	37	7	48314889	48314889	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:48314889G>C	ENST00000435803.1	+	17	5650	c.5626G>C	c.(5626-5628)Gaa>Caa	p.E1876Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1876					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGTTCAAATGAAAGCTCCCG	0.423000													33	98					0	0	0.760397	0	0
UNC45A	55898	broad.mit.edu	37	15	91488219	91488219	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:91488219C>T	ENST00000394275.2	+	12	1915	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	UNC45A_ENST00000418476.2_Silent_p.L375L	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	375					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTATTCTCCTCAGCAAGCTCT	0.512000													26	81					0	0	0.693898	0	0
ARC	23237	broad.mit.edu	37	8	143695306	143695306	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:143695306G>C	ENST00000356613.2	-	1	1527	c.327C>G	c.(325-327)gtC>gtG	p.V109V		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	109					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TCTCGCGCTTGACCCAGCGCT	0.682000													6	38					0	0	0.278610	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956074	18956074	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18956074G>T	ENST00000302797.3	-	1	482	c.258C>A	c.(256-258)agC>agA	p.S86R	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	86					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TACTGATGAAGCTTAACAGGG	0.522000													46	135					4.21674e-32	4.54905e-32	0.870114	1	0
HRH4	59340	broad.mit.edu	37	18	22048902	22048902	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:22048902C>T	ENST00000256906.4	+	2	444	c.344C>T	c.(343-345)tCa>tTa	p.S115L	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	115						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	CGATACCTGTCAGTCTCAAAT	0.348000													21	116					0	0	0.608945	0	0
CD19	930	broad.mit.edu	37	16	28943860	28943860	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:28943860C>A	ENST00000538922.1	+	2	344	c.282C>A	c.(280-282)ttC>ttA	p.F94L	CD19_ENST00000567541.1_Missense_Mutation_p.F94L|CD19_ENST00000324662.3_Missense_Mutation_p.F94L	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	94	Ig-like C2-type 1.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						TGGGGGGCTTCTACCTGTGCC	0.642000													6	34					0.217242	0.21902	0.217242	1	0
DDX1	1653	broad.mit.edu	37	2	15768620	15768620	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:15768620G>T	ENST00000381341.2	+	22	2127	c.1738G>T	c.(1738-1740)Gat>Tat	p.D580Y	DDX1_ENST00000233084.3_Missense_Mutation_p.D580Y			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	580	Helicase C-terminal.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TAGAGGAATTGATATCCACGG	0.343000													35	126					4.0492e-12	4.24202e-12	0.827153	1	0
ABCA3	21	broad.mit.edu	37	16	2339481	2339481	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2339481C>A	ENST00000301732.5	-	20	3354	c.2654G>T	c.(2653-2655)gGa>gTa	p.G885V	ABCA3_ENST00000382381.3_Missense_Mutation_p.G827V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	885					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GATGAGGGCTCCAATGCCGTC	0.682000													3	11					0.000602214	0.000615197	0.184627	1	0
RASA1	5921	broad.mit.edu	37	5	86564372	86564372	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:86564372G>T	ENST00000274376.6	+	1	668	c.104G>T	c.(103-105)cGg>cTg	p.R35L		NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	35					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCAGTGTGTCGGGTGAAGATA	0.721000													4	2					5.9392e-07	6.11797e-07	0.217242	1	0
TTC29	83894	broad.mit.edu	37	4	147741384	147741384	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:147741384C>G	ENST00000513335.1	-	11	1271	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q	TTC29_ENST00000325106.4_Missense_Mutation_p.E332Q|TTC29_ENST00000398886.4_Missense_Mutation_p.E358Q			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	332							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTAATTGCTTCTGTCATCTCT	0.353000													8	55					0	0	0.278610	0	0
MYH13	8735	broad.mit.edu	37	17	10209920	10209920	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10209920C>G	ENST00000418404.3	-	36	5485	c.5322G>C	c.(5320-5322)aaG>aaC	p.K1774N	MYH13_ENST00000252172.4_Missense_Mutation_p.K1774N|MYH13_ENST00000570743.1_Missense_Mutation_p.K1774N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1774					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTGTTCCTTCTTTAGCTCCT	0.577000													53	126					0	0	0.870114	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			27	148					0	0	0.706142	0	0
B4GALT6	9331	broad.mit.edu	37	18	29211016	29211016	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:29211016C>T	ENST00000306851.5	-	6	978	c.682G>A	c.(682-684)Gat>Aat	p.D228N	B4GALT6_ENST00000383131.3_Missense_Mutation_p.D189N|B4GALT6_ENST00000237019.7_Missense_Mutation_p.D189N	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	228					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TGATCCACATCGTGGAAGATT	0.433000													37	81					0	0	0.834066	0	0
RP1	6101	broad.mit.edu	37	8	55538105	55538105	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:55538105C>G	ENST00000220676.1	+	4	1811	c.1663C>G	c.(1663-1665)Cag>Gag	p.Q555E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	555					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATTACAAGTCAGAAGATGTT	0.338000													20	103					0	0	0.557998	0	0
HDAC9	9734	broad.mit.edu	37	7	18624936	18624936	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:18624936G>T	ENST00000406451.3	+	3	205	c.55G>T	c.(55-57)Gag>Tag	p.E19*	HDAC9_ENST00000405010.3_Nonsense_Mutation_p.E19*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.E19*|HDAC9_ENST00000417496.2_Nonsense_Mutation_p.E61*|HDAC9_ENST00000524023.1_5'UTR|HDAC9_ENST00000428307.2_Nonsense_Mutation_p.E19*|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406072.1_Nonsense_Mutation_p.E47*|HDAC9_ENST00000456174.2_5'UTR|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.E19*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.E19*	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	19					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGTGGGCCTGGAGCCCATCTC	0.483000													95	245					3.17824e-57	3.45595e-57	0.870114	1	0
TMEM67	91147	broad.mit.edu	37	8	94767324	94767324	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:94767324C>G	ENST00000453321.3	+	1	240	c.182C>G	c.(181-183)tCg>tGg	p.S61W	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	61					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TCCGCCCTCTCGTGTGTTCCT	0.562000													57	263					0	0	0.870114	0	0
FCGR3A	2214	broad.mit.edu	37	1	161512965	161512965	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:161512965G>A	ENST00000367969.3	-	5	893	c.710C>T	c.(709-711)tCa>tTa	p.S237L	FCGR3A_ENST00000443193.1_Missense_Mutation_p.S236L|FCGR3A_ENST00000436743.1_Missense_Mutation_p.S201L|FCGR3A_ENST00000540048.1_Missense_Mutation_p.S201L	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	201					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGAAAGAATGATGAGATGGT	0.423000													42	72					0	0	0.840704	0	0
DYRK4	8798	broad.mit.edu	37	12	4705759	4705759	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:4705759C>A	ENST00000540757.2	+	6	584	c.424C>A	c.(424-426)Cac>Aac	p.H142N	DYRK4_ENST00000543431.1_Missense_Mutation_p.H142N|DYRK4_ENST00000010132.5_Missense_Mutation_p.H142N	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	142	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CCTTAGGTTTCACCAGCAGGC	0.527000													16	34					5.35267e-07	5.5184e-07	0.557998	1	0
NARF	26502	broad.mit.edu	37	17	80442792	80442792	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:80442792G>C	ENST00000390006.4	+	9	1234	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	NARF_ENST00000309794.10_Missense_Mutation_p.E313Q|NARF_ENST00000457415.3_Missense_Mutation_p.E359Q|NARF_ENST00000345415.7_Missense_Mutation_p.E265Q	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	313						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTGTTCAACGAGGATGTGGA	0.572000													5	63					0	0	0.184627	0	0
DGKQ	1609	broad.mit.edu	37	4	955492	955492	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:955492A>G	ENST00000273814.3	-	20	2519	c.2446T>C	c.(2446-2448)Ttc>Ctc	p.F816L		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	816					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATGTTGATGAAGATGAGGCCT	0.662000													16	34					0	0	0.539581	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15028313	15028313	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrY:15028313C>A	ENST00000336079.3	+	13	1556	c.1450C>A	c.(1450-1452)Cag>Aag	p.Q484K	DDX3Y_ENST00000360160.4_Missense_Mutation_p.Q484K	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	484	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						GGCCCTTCACCAGTTTCGCTC	0.398000													14	161					0.00316338	0.00321293	0.479597	1	0
TMEM117	84216	broad.mit.edu	37	12	44605135	44605135	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:44605135C>G	ENST00000266534.3	+	5	700	c.573C>G	c.(571-573)ttC>ttG	p.F191L	TMEM117_ENST00000551577.1_Missense_Mutation_p.F191L|TMEM117_ENST00000536799.1_Missense_Mutation_p.F87L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	191						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAAGAGCTTTCTGGAAGAAAG	0.393000													3	124					0	0	0.150653	0	0
GPR63	81491	broad.mit.edu	37	6	97246864	97246864	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:97246864G>C	ENST00000229955.3	-	2	1089	c.744C>G	c.(742-744)ctC>ctG	p.L248L	GPR63_ENST00000417980.1_Silent_p.L248L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	248						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGAAAGAAATGAGAGAAATCA	0.473000													72	81					0	0	0.870114	0	0
KIF21A	55605	broad.mit.edu	37	12	39713804	39713804	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:39713804G>C	ENST00000395670.3	-	27	4102	c.3683C>G	c.(3682-3684)tCa>tGa	p.S1228*	KIF21A_ENST00000361418.5_Nonsense_Mutation_p.S1228*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.S1215*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.S1208*|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.S1192*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1228					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGATAGAGATGACTGCCTGGA	0.328000													11	53					0	0	0.361761	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73205267	73205267	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:73205267G>C	ENST00000545377.1	+	34	4368	c.4192G>C	c.(4192-4194)Gag>Cag	p.E1398Q	ARHGEF28_ENST00000426542.2_Missense_Mutation_p.E1398Q|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.E318Q|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E1398Q|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E1398Q|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E1085Q|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E1354Q|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E1398Q	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CAGCCACATTGAGATCCACAG	0.567000													7	28					0	0	0.248553	0	0
VAT1L	57687	broad.mit.edu	37	16	77859251	77859251	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:77859251G>A	ENST00000302536.2	+	3	625	c.472G>A	c.(472-474)Gct>Act	p.A158T		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	158							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTTCTCCGAGGCTGCTGCATT	0.537000													19	63					0	0	0.539581	0	0
FAM53B	9679	broad.mit.edu	37	10	126311954	126311954	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:126311954C>T	ENST00000337318.3	-	5	1337	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.E376K	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	376										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TCTGACTCCTCACAGGACAGG	0.716000													5	29					0	0	0.248553	0	0
NLRP5	126206	broad.mit.edu	37	19	56515156	56515156	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56515156C>T	ENST00000390649.3	+	2	137	c.137C>T	c.(136-138)tCt>tTt	p.S46F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	46						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AACCTGAGCTCTCAGCCTTGT	0.438000													48	132					0	0	0.870114	0	0
DHTKD1	55526	broad.mit.edu	37	10	12162209	12162209	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:12162209G>A	ENST00000263035.4	+	16	2663	c.2601G>A	c.(2599-2601)caG>caA	p.Q867Q		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	867					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AGGAACCTCAGAACATGGGTC	0.448000													79	115					0	0	0.870114	0	0
LRP3	4037	broad.mit.edu	37	19	33696521	33696521	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:33696521G>A	ENST00000253193.7	+	5	1047	c.845G>A	c.(844-846)tGc>tAc	p.C282Y		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	282	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GACCTTCACTGCACGTGGCTG	0.692000													9	26					0	0	0.387290	0	0
AGBL2	79841	broad.mit.edu	37	11	47684621	47684621	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:47684621G>A	ENST00000525123.1	-	18	2777	c.2492C>T	c.(2491-2493)tCa>tTa	p.S831L	AGBL2_ENST00000298861.4_Missense_Mutation_p.S831L|AGBL2_ENST00000357610.3_Missense_Mutation_p.S833L	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	831					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GGTGGCCATTGATGGGTCCAG	0.353000													106	325					0	0	0.870114	0	0
MCM6	4175	broad.mit.edu	37	2	136620310	136620310	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:136620310C>T	ENST00000264156.2	-	8	1147	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	363	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CGTTTTACTTCATCATTGCCT	0.408000													40	80					0	0	0.864702	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835020	12835020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12835020C>T	ENST00000357726.4	+	1	37	c.10C>T	c.(10-12)Cag>Tag	p.Q4*		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	4										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGAGCCTCCAGGCCCCACC	0.542000													27	81					0	0	0.706142	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80239130	80239130	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:80239130C>G	ENST00000450142.2	-	3	705	c.439G>C	c.(439-441)Gag>Cag	p.E147Q	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E147Q|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E147Q|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E147Q|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E60Q	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	147						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GCCTCCTCCTCCGCAATATCT	0.373000													13	35					0	0	0.500413	0	0
OR4A15	81328	broad.mit.edu	37	11	55135371	55135371	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55135371G>A	ENST00000314706.3	+	1	12	c.12G>A	c.(10-12)ctG>ctA	p.L4L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGGAGCTTCTGACAAATAATC	0.408000													21	66					0	0	0.592651	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95513799	95513799	+	RNA	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:95513799C>T	ENST00000432432.2	-	0	812					NR_040113.1																						TCTTCTGCATCTCGTCCACAC	0.358000													11	807					0	0	0.804634	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74873772	74873772	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:74873772G>A	ENST00000289575.5	+	2	484	c.89G>A	c.(88-90)gGa>gAa	p.G30E	SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G8E|SLCO2B1_ENST00000532236.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000526660.1_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	30					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	AACACACCTGGAGGCAAAGCC	0.577000													111	237					0	0	0.870114	0	0
DNMT3A	1788	broad.mit.edu	37	2	25472531	25472531	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:25472531C>T	ENST00000380746.4	-	2	180	c.67G>A	c.(67-69)Gat>Aat	p.D23N	DNMT3A_ENST00000264709.3_Intron|DNMT3A_ENST00000402667.1_Intron|DNMT3A_ENST00000321117.5_Intron	NM_153759.3	NP_715640.2	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	63					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCACCGTATCACACTCGTCT	0.498000			"""Mis, F, N, S"""		AML								20	73					0	0	0.667858	0	0
KATNAL1	84056	broad.mit.edu	37	13	30854258	30854258	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:30854258G>C	ENST00000380615.3	-	3	432	c.265C>G	c.(265-267)Caa>Gaa	p.Q89E	KATNAL1_ENST00000380617.3_Missense_Mutation_p.Q89E	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	89						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GGTTCATCTTGACAGGACACA	0.393000													18	51					0	0	0.557998	0	0
FMNL2	114793	broad.mit.edu	37	2	153415272	153415272	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:153415272G>C	ENST00000288670.9	+	5	745	c.378G>C	c.(376-378)ctG>ctC	p.L126L		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	126	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GAGAATTTCTGAATGAAGAAA	0.368000													8	30					0	0	0.335167	0	0
ZNF791	163049	broad.mit.edu	37	19	12734532	12734532	+	Translation_Start_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:12734532G>A	ENST00000458122.3	+	0	322				ZNF791_ENST00000540038.1_Intron|ZNF791_ENST00000446165.1_Missense_Mutation_p.D8N|ZNF791_ENST00000343325.4_Missense_Mutation_p.D8N|ZNF490_ENST00000465656.1_Intron			Q3KP31	ZN791_HUMAN	zinc finger protein 791						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GGCTTTTGAGGATGTGTCTGT	0.453000													7	248					0	0	0.307466	0	0
RNF219	79596	broad.mit.edu	37	13	79190259	79190259	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:79190259G>A	ENST00000282003.6	-	6	1695	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	546	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTCTGACTCTGACATCATTGA	0.413000													50	210					0	0	0.870114	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474836	140474836	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140474836C>G	ENST00000194155.4	+	1	610	c.462C>G	c.(460-462)ttC>ttG	p.F154L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		154	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACTACTTTCTTAATAGAAC	0.393000													12	58					0	0	0.457914	0	0
MYH2	4620	broad.mit.edu	37	17	10428570	10428570	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10428570C>G	ENST00000245503.5	-	33	5017	c.4633G>C	c.(4633-4635)Gaa>Caa	p.E1545Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1545Q|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1545					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCTGAAGTTCACACTTTTCT	0.363000													35	152					0	0	0.796494	0	0
COL4A3	1285	broad.mit.edu	37	2	228128542	228128542	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:228128542G>C	ENST00000396578.3	+	21	1359	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	399	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCCAGGCCTGAAAGGAAGTA	0.517000													9	44					0	0	0.307466	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143878	142143878	+	RNA	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:142143878G>C	ENST00000390373.2	-	0	117																											GCACACAGCAGAGTCATGCTC	0.502000													45	99					0	0	0.864702	0	0
SLC22A11	55867	broad.mit.edu	37	11	64323848	64323848	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:64323848C>G	ENST00000301891.4	+	1	751	c.377C>G	c.(376-378)tCc>tGc	p.S126C	SLC22A11_ENST00000377585.3_Missense_Mutation_p.S126C|SLC22A11_ENST00000377581.3_Missense_Mutation_p.S126C|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	126					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GTCTTCACCTCCACCATCGTG	0.627000													14	36					0	0	0.500413	0	0
WIZ	58525	broad.mit.edu	37	19	15547894	15547894	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:15547894G>A	ENST00000389282.4	-	4	2532	c.2319C>T	c.(2317-2319)ttC>ttT	p.F773F	WIZ_ENST00000595214.2_5'UTR|WIZ_ENST00000263381.6_Silent_p.F84F			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	773						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CAGCCCCGCAGAAGTCACAGC	0.647000													6	21					0	0	0.217242	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62788529	62788529	+	RNA	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:62788529C>T	ENST00000582986.1	-	0	2080					NR_024386.1																						CCAGGAGCTTCAGCTGCTCCC	0.612000													38	71					0	0	0.864702	0	0
SYT10	341359	broad.mit.edu	37	12	33592455	33592455	+	Translation_Start_Site	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:33592455C>T	ENST00000228567.3	-	1	299	c.3G>A	c.(1-3)atG>atA	p.M1I	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	1						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TGTGGAAACTCATCGTTTGGC	0.542000													78	234					0	0	0.870114	0	0
MICAL2	9645	broad.mit.edu	37	11	12183923	12183923	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:12183923C>T	ENST00000256194.4	+	3	509	c.221C>T	c.(220-222)tCc>tTc	p.S74F	MICAL2_ENST00000342902.5_Missense_Mutation_p.S74F|MICAL2_ENST00000379612.3_Missense_Mutation_p.S74F|MICAL2_ENST00000537344.1_Missense_Mutation_p.S74F|MICAL2_ENST00000527546.1_Missense_Mutation_p.S74F	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	74						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)		AAGCGTGGTTCCCACAAAGAG	0.502000													11	49					0	0	0.361761	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004323	101004323	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:101004323C>T	ENST00000556751.1	-	5	4977	c.1573G>A	c.(1573-1575)Gga>Aga	p.G525R	BEGAIN_ENST00000443071.2_Missense_Mutation_p.G589R|BEGAIN_ENST00000355173.2_Missense_Mutation_p.G589R			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	589						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				AGCAAGGTTCCGTAGAGCTGG	0.706000													13	22					0	0	0.435327	0	0
OR2T3	343173	broad.mit.edu	37	1	248637600	248637600	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:248637600G>C	ENST00000359594.2	+	1	974	c.949G>C	c.(949-951)Gaa>Caa	p.E317Q		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATGAACCAAGAAAAGTAGTA	0.502000													101	353					0	0	0.870114	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84605884	84605884	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:84605884G>C	ENST00000344803.2	+	4	546	c.499G>C	c.(499-501)Gag>Cag	p.E167Q		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TTCTGCGACTGAGTCATCGTT	0.552000													27	81					0	0	0.706142	0	0
SPTA1	6708	broad.mit.edu	37	1	158621223	158621223	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:158621223G>C	ENST00000368148.3	-	24	3591	c.3411C>G	c.(3409-3411)atC>atG	p.I1137M	SPTA1_ENST00000368147.3_Missense_Mutation_p.I1137M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1137					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTACCTTGTTGATATCCCTTA	0.438000													98	183					0	0	0.870114	0	0
AGAP1	116987	broad.mit.edu	37	2	236949416	236949416	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:236949416G>A	ENST00000409538.1	+	14	2954	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K	AGAP1_ENST00000304032.7_Missense_Mutation_p.E608K|AGAP1_ENST00000336665.5_Missense_Mutation_p.E555K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E447K			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	608					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAGCCAGAGCGAGGCCATGGC	0.602000													15	58					0	0	0.500413	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643675	37643675	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:37643675G>T	ENST00000356958.4	-	5	1384	c.1126C>A	c.(1126-1128)Cac>Aac	p.H376N	ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H321N|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H321N			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTGTGAATTCTCTGA	0.408000													64	134					9.07738e-34	9.81856e-34	0.870114	1	0
KIAA2022	340533	broad.mit.edu	37	X	73961334	73961334	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:73961334C>T	ENST00000373468.1	-	3	3709	c.3058G>A	c.(3058-3060)Gat>Aat	p.D1020N	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D1020N			Q5QGS0	K2022_HUMAN	KIAA2022	1020					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGATATCATCATCGCCATCC	0.473000													43	49					0	0	0.840704	0	0
SEC22B	9554	broad.mit.edu	37	1	145109554	145109554	+	RNA	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:145109554G>C	ENST00000453618.1	+	0	543							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TGTGTGATTTGGTTTTATGTG	0.413000													17	604					0	0	0.520397	0	0
HERC5	51191	broad.mit.edu	37	4	89421102	89421102	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:89421102G>C	ENST00000264350.3	+	19	2623	c.2470G>C	c.(2470-2472)Gaa>Caa	p.E824Q	HERC5_ENST00000508159.1_Missense_Mutation_p.E462Q	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	824	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TCTGGATGATGAAGGTGATAA	0.289000													29	103					0	0	0.740014	0	0
OR9K2	441639	broad.mit.edu	37	12	55524495	55524495	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:55524495C>G	ENST00000305377.5	+	1	1031	c.943C>G	c.(943-945)Ctg>Gtg	p.L315V		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GATTTACTCTCTGAGGAACAA	0.343000													69	170					0	0	0.870114	0	0
ABCB1	5243	broad.mit.edu	37	7	87195516	87195516	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:87195516C>G	ENST00000265724.3	-	8	989	c.572G>C	c.(571-573)gGa>gCa	p.G191A	ABCB1_ENST00000543898.1_Missense_Mutation_p.G127A	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	191	ABC transmembrane type-1 1.				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)	AAAGAACATTCCAATTTTGTC	0.363000													5	150					0	0	0.217242	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476619	110476619	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:110476619G>C	ENST00000378402.5	+	49	7662	c.7558G>C	c.(7558-7560)Gat>Cat	p.D2520H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2520					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATTATATATGATATTAAGGG	0.363000										HNSCC(38;0.096)			20	53					0	0	0.592651	0	0
ALPK3	57538	broad.mit.edu	37	15	85360149	85360149	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:85360149G>T	ENST00000258888.5	+	1	239	c.72G>T	c.(70-72)cgG>cgT	p.R24R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	24					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCAGTCACGGCTGGTGCCAG	0.662000													6	22					8.12818e-05	8.3519e-05	0.248553	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6114560	6114560	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:6114560C>G	ENST00000409021.3	-	2	467	c.18G>C	c.(16-18)cgG>cgC	p.R6R	JAKMIP1_ENST00000410077.2_Silent_p.R6R|JAKMIP1_ENST00000409831.1_Silent_p.R6R|JAKMIP1_ENST00000409371.3_Silent_p.R6R|JAKMIP1_ENST00000282924.5_Silent_p.R6R|JAKMIP1_ENST00000457227.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	6	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCCCTTGCTCCGGCCTTTCT	0.632000													24	44					0	0	0.681144	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123126144	123126144	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:123126144G>C	ENST00000368440.4	+	6	1006	c.829G>C	c.(829-831)Gat>Cat	p.D277H	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.D146H	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	277					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		GAAATTGATAGATATTTTTCA	0.348000													7	227					0	0	0.248553	0	0
TFAP4	7023	broad.mit.edu	37	16	4310485	4310485	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4310485C>T	ENST00000204517.6	-	5	965	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	213	Gln-rich.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						tgttcccgctccagcttctcc	0.647000													4	14					0	0	0.307466	0	0
TRPV1	7442	broad.mit.edu	37	17	3494413	3494413	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:3494413G>C	ENST00000174621.6	-	3	732	c.443C>G	c.(442-444)tCa>tGa	p.S148*	TRPV1_ENST00000571088.1_Intron|SHPK_ENST00000572705.1_Intron|TRPV1_ENST00000399756.4_Intron|TRPV1_ENST00000310522.5_Intron|TRPV1_ENST00000399759.3_Intron|TRPV1_ENST00000576351.1_Intron|TRPV1_ENST00000425167.2_Intron			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	0					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTCAGGGTCTGAAAGACATAA	0.622000													9	23					0	0	0.307466	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232601014	232601014	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:232601014G>T	ENST00000366630.1	-	8	2750	c.2392C>A	c.(2392-2394)Cga>Aga	p.R798R	SIPA1L2_ENST00000262861.4_Silent_p.R798R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	798	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.R798*(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCCATTGCTCGAAACTTTTCT	0.468000													30	194					2.47316e-13	2.60199e-13	0.779181	1	0
NRXN3	9369	broad.mit.edu	37	14	79181351	79181351	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:79181351C>G	ENST00000554719.1	+	5	1285	c.794C>G	c.(793-795)tCc>tGc	p.S265C	NRXN3_ENST00000335750.5_Missense_Mutation_p.S265C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					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)		GTCAAGTCCTCCTGTTCACGG	0.562000													3	118					0	0	0.115264	0	0
MYLK3	91807	broad.mit.edu	37	16	46763019	46763019	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:46763019G>A	ENST00000394809.4	-	7	1804	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	MYLK3_ENST00000536476.1_Silent_p.I222I	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	563	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCTGGTTCATGATGTTGATCT	0.537000													35	101					0	0	0.812448	0	0
MSTN	2660	broad.mit.edu	37	2	190927053	190927053	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:190927053C>G	ENST00000260950.4	-	1	402	c.270G>C	c.(268-270)ctG>ctC	p.L90L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	90					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ACTGATCAATCAGTTCCCGGA	0.438000													11	126					0	0	0.361761	0	0
DYM	54808	broad.mit.edu	37	18	46905007	46905007	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:46905007G>A	ENST00000269445.6	-	5	808	c.351C>T	c.(349-351)ttC>ttT	p.F117F	DYM_ENST00000578396.1_5'UTR|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	117						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TCTGACAGATGAACACTTTCA	0.323000													20	40					0	0	0.654019	0	0
ZNF608	57507	broad.mit.edu	37	5	123983566	123983566	+	Silent	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:123983566C>A	ENST00000306315.5	-	4	2946	c.2511G>T	c.(2509-2511)ggG>ggT	p.G837G	ZNF608_ENST00000504926.1_Silent_p.G410G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	837						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCTCTAGTTTCCCCAGCTTGG	0.463000													91	263					8.03987e-26	8.60566e-26	0.870114	1	0
CC2D1B	200014	broad.mit.edu	37	1	52821958	52821958	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:52821958G>C	ENST00000371586.2	-	18	2110	c.1972C>G	c.(1972-1974)Cag>Gag	p.Q658E	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q652E|CC2D1B_ENST00000438831.1_Missense_Mutation_p.Q33E	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	658										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TTGCGGTCCTGAGCAAGCTTC	0.572000													64	299					0	0	0.870114	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20781915	20781915	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:20781915C>G	ENST00000398169.3	-	6	959	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.E115Q			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	115						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AGATGGCCCTCAGCCTTGCTG	0.373000			T	HMGA2	leiomyoma								112	77					0	0	0.870114	0	0
TARSL2	123283	broad.mit.edu	37	15	102264441	102264441	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:102264441G>C	ENST00000335968.3	-	1	366	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	50					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTCCCGCGTGAGGCACGGCC	0.736000													6	10					0	0	0.217242	0	0
ZNF462	58499	broad.mit.edu	37	9	109691062	109691062	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:109691062G>A	ENST00000277225.5	+	3	5158	c.4869G>A	c.(4867-4869)atG>atA	p.M1623I	ZNF462_ENST00000457913.1_Missense_Mutation_p.M1623I|ZNF462_ENST00000441147.2_Missense_Mutation_p.M468I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1623					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCCCGAGATGACCACTGAAG	0.547000													34	131					0	0	0.870114	0	0
SIDT1	54847	broad.mit.edu	37	3	113286437	113286437	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:113286437C>T	ENST00000264852.4	+	3	1121	c.395C>T	c.(394-396)tCa>tTa	p.S132L	SIDT1_ENST00000393830.3_Missense_Mutation_p.S132L	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	132						integral to membrane		p.S132L(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TTATGTCCCTCAGAAGCAACC	0.473000													135	169					0	0	0.870114	0	0
DHX37	57647	broad.mit.edu	37	12	125449160	125449160	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:125449160G>A	ENST00000308736.2	-	15	1923	c.1825C>T	c.(1825-1827)Cca>Tca	p.P609S	DHX37_ENST00000544745.1_Missense_Mutation_p.P396S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	609	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCCTCCGGTGGAGGCTTAAAG	0.547000													19	61					0	0	0.592651	0	0
KCND2	3751	broad.mit.edu	37	7	119915729	119915729	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:119915729G>T	ENST00000331113.4	+	1	2008	c.1043G>T	c.(1042-1044)gGg>gTg	p.G348V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	348					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCAGAGAAGGGGTCTTCGGCT	0.493000													36	145					9.85521e-28	1.05671e-27	0.819951	1	0
KIAA0947	23379	broad.mit.edu	37	5	5461061	5461061	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:5461061G>A	ENST00000296564.7	+	13	1836	c.1614G>A	c.(1612-1614)agG>agA	p.R538R		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	538										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTGGCAAAAGGCCATTAAATG	0.448000													74	267					0	0	0.870114	0	0
PAQR9	344838	broad.mit.edu	37	3	142681653	142681653	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:142681653G>C	ENST00000340634.3	-	1	525	c.526C>G	c.(526-528)Ctg>Gtg	p.L176V		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	176						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CCTGGCAACAGGTAGTAGTAG	0.622000													4	45					0	0	0.150653	0	0
SOX30	11063	broad.mit.edu	37	5	157078561	157078561	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:157078561C>G	ENST00000265007.6	-	1	867	c.526G>C	c.(526-528)Ggc>Cgc	p.G176R	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.G176R	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	176					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGGAAGTAGCCGAGGGCCGGC	0.677000													55	93					0	0	0.870114	0	0
RBBP8	5932	broad.mit.edu	37	18	20596847	20596847	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:20596847G>C	ENST00000399722.2	+	17	2765	c.2414G>C	c.(2413-2415)aGa>aCa	p.R805T	RBBP8_ENST00000327155.5_Missense_Mutation_p.R805T|RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000360790.5_Missense_Mutation_p.R810T|RBBP8_ENST00000399725.2_Intron	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	805					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAAGAGGAGAGAAGAAAACTG	0.338000								Homologous recombination					19	102					0	0	0.624587	0	0
CCDC97	90324	broad.mit.edu	37	19	41825513	41825513	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:41825513C>G	ENST00000269967.3	+	3	659	c.537C>G	c.(535-537)ttC>ttG	p.F179L		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	179										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						AGATGCGGTTCCGGGCCCCCC	0.627000													34	158					0	0	0.827153	0	0
FKBP4	2288	broad.mit.edu	37	12	2907035	2907035	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:2907035G>C	ENST00000001008.4	+	3	578	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	131	PPIase FKBP-type 1.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GCTTGTATTTGAGGTGAGTGT	0.552000													50	156					0	0	0.870114	0	0
MAP1A	4130	broad.mit.edu	37	15	43815427	43815427	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:43815427G>A	ENST00000382031.1	+	5	2501	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E586K|MAP1A_ENST00000300231.5_Missense_Mutation_p.E586K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	586						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCTGGGACAAGAAGAACATGT	0.542000													16	33					0	0	0.500413	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955404	18955404	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18955404C>G	ENST00000302797.3	-	1	1152	c.928G>C	c.(928-930)Gag>Cag	p.E310Q		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	310				EEI -> QET (in Ref. 2; AAL86880).	acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGATTTCCTCAGGAAGCTGC	0.572000													40	83					0	0	0.812448	0	0
IDH3B	3420	broad.mit.edu	37	20	2640908	2640908	+	Splice_Site	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:2640908C>T	ENST00000380843.4	-	8	799		c.e8+1		IDH3B_ENST00000488299.1_Splice_Site|IDH3B_ENST00000380851.5_Splice_Site	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta						isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	GGAGGCCTCACCTGCATGCAG	0.517000													14	48					0	0	0.457914	0	0
LHX4	89884	broad.mit.edu	37	1	180243597	180243597	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:180243597G>C	ENST00000263726.2	+	6	1300	c.1056G>C	c.(1054-1056)ctG>ctC	p.L352L	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	352						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCCAGACGCTGAGAGCCATGG	0.572000													46	296					0	0	0.870114	0	0
LPA	4018	broad.mit.edu	37	6	160977188	160977188	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:160977188C>T	ENST00000447678.1	-	31	4962	c.4842G>A	c.(4840-4842)cgG>cgA	p.R1614R	LPA_ENST00000316300.5_Silent_p.R1614R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4122	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGTAGCACTGCCGGACCACAG	0.468000													4	161					0	0	0.184627	0	0
ZHX3	23051	broad.mit.edu	37	20	39832032	39832032	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:39832032G>C	ENST00000309060.3	-	4	1940	c.1525C>G	c.(1525-1527)Ctg>Gtg	p.L509V	ZHX3_ENST00000544979.2_Missense_Mutation_p.L509V|ZHX3_ENST00000432768.2_Missense_Mutation_p.L509V|ZHX3_ENST00000560361.1_Missense_Mutation_p.L509V|ZHX3_ENST00000559234.1_Missense_Mutation_p.L509V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.L509V|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	509	Required for nuclear localization.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CTCCCTTTCAGAGCTGACAGC	0.527000													18	77					0	0	0.557998	0	0
NRXN1	9378	broad.mit.edu	37	2	51254859	51254859	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:51254859G>C	ENST00000404971.1	-	2	1892	c.553C>G	c.(553-555)Cgt>Ggt	p.R185G	NRXN1_ENST00000401669.2_Missense_Mutation_p.R185G|NRXN1_ENST00000402717.3_Missense_Mutation_p.R185G|NRXN1_ENST00000405472.3_Missense_Mutation_p.R185G|NRXN1_ENST00000406316.2_Missense_Mutation_p.R185G|NRXN1_ENST00000406859.3_Missense_Mutation_p.R185G|NRXN1_ENST00000405581.1_Missense_Mutation_p.R185G	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	185	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCACGTCACGAATCCACCCC	0.706000													3	10					0	0	0.115264	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166918077	166918077	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:166918077G>A	ENST00000510118.1	-	8	898	c.558C>T	c.(556-558)gtC>gtT	p.V186V	RPS6KA2_ENST00000405189.3_Silent_p.V72V|RPS6KA2_ENST00000503859.1_Silent_p.V169V|RPS6KA2_ENST00000366863.2_Silent_p.V7V|RPS6KA2_ENST00000265678.4_Silent_p.V161V|RPS6KA2_ENST00000481261.2_Silent_p.V72V			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	161	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGTAGAACTTGACATCCTCCT	0.413000													52	119					0	0	0.870114	0	0
CECR6	27439	broad.mit.edu	37	22	17601079	17601079	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:17601079G>A	ENST00000331437.3	-	1	1064	c.939C>T	c.(937-939)ttC>ttT	p.F313F	CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	313	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CCAGGTAGGCGAAGGCGAACT	0.736000													24	64					0	0	0.654019	0	0
COL6A6	131873	broad.mit.edu	37	3	130281985	130281985	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:130281985G>A	ENST00000358511.6	+	2	169	c.138G>A	c.(136-138)gtG>gtA	p.V46V	COL6A6_ENST00000453409.2_Silent_p.V46V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	46	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCCATTTGTGAAAATGTTCA	0.473000													5	343					0	0	0.248553	0	0
HS1BP3	64342	broad.mit.edu	37	2	20818831	20818831	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:20818831C>T	ENST00000304031.3	-	7	1120	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	365					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCTTGGATCTGCTCCTGCG	0.622000													22	85					0	0	0.853193	0	0
HTR3B	9177	broad.mit.edu	37	11	113816676	113816676	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:113816676C>T	ENST00000260191.2	+	9	1400	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	HTR3B_ENST00000537778.1_Silent_p.V370V	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	381	HA-stretch.				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TGAAGGAAGTCTGGTCGCAGC	0.572000													23	56					0	0	0.639603	0	0
NUP160	23279	broad.mit.edu	37	11	47819408	47819408	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:47819408C>G	ENST00000378460.2	-	27	3258	c.3212G>C	c.(3211-3213)aGa>aCa	p.R1071T	NUP160_ENST00000528071.1_Missense_Mutation_p.R957T|NUP160_ENST00000530326.1_Missense_Mutation_p.R957T	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1071					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GTCCACAGCTCTAGCACGTGA	0.438000													35	138					0	0	0.796494	0	0
MAP3K10	4294	broad.mit.edu	37	19	40698342	40698342	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:40698342C>T	ENST00000253055.3	+	1	692	c.404C>T	c.(403-405)cCg>cTg	p.P135L	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	135	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GAGAAGGACCCGGCAGTGACA	0.662000													12	67					0	0	0.387290	0	0
RASL11B	65997	broad.mit.edu	37	4	53731941	53731941	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:53731941C>A	ENST00000248706.3	+	4	934	c.716C>A	c.(715-717)tCt>tAt	p.S239Y	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	239	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CAAGCCCTCTCTGCCAAAGTG	0.567000													21	62					4.26978e-12	4.4693e-12	0.654019	1	0
ZMAT1	84460	broad.mit.edu	37	X	101139594	101139594	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:101139594C>G	ENST00000372782.3	-	7	852	c.805G>C	c.(805-807)Gaa>Caa	p.E269Q	ZMAT1_ENST00000540921.1_Missense_Mutation_p.E269Q|ZMAT1_ENST00000458570.1_Missense_Mutation_p.E98Q|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	98						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AGTCTTTGTTCAAACATTCTA	0.413000													80	56					0	0	0.870114	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452225	43452225	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:43452225C>G	ENST00000282388.3	-	2	1011	c.718G>C	c.(718-720)Gat>Cat	p.D240H	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	240					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D240N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGCAACGCATCGCGCGTGCCA	0.746000													6	16					0	0	0.278610	0	0
SLC47A1	55244	broad.mit.edu	37	17	19470501	19470501	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:19470501C>T	ENST00000270570.4	+	14	1355	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	SLC47A1_ENST00000571335.1_Silent_p.I228I|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000395585.1_Silent_p.I423I|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Silent_p.I400I|SLC47A1_ENST00000457293.1_Silent_p.I423I	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	423						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GCCTCCCCATCGGGATCGCGC	0.557000													90	198					0	0	0.870114	0	0
ITSN2	50618	broad.mit.edu	37	2	24440837	24440837	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:24440837C>G	ENST00000355123.4	-	31	4188	c.3745G>C	c.(3745-3747)Gag>Cag	p.E1249Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.E1222Q|AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413989.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1249	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGCCATCTCCCCTTCAGTG	0.463000													35	84					0	0	0.819951	0	0
RNF216	54476	broad.mit.edu	37	7	5662575	5662575	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:5662575G>A	ENST00000425013.2	-	17	2741	c.2517C>T	c.(2515-2517)gtC>gtT	p.V839V	RNF216_ENST00000389902.3_Silent_p.V896V|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	839	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGTCATAGTTGACCCGCACGT	0.642000													75	203					0	0	0.870114	0	0
MICALL2	79778	broad.mit.edu	37	7	1486399	1486399	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:1486399C>G	ENST00000297508.7	-	5	766	c.591G>C	c.(589-591)ctG>ctC	p.L197L	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	197	LIM zinc-binding.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCCGCTGTACCAGGTGCACGT	0.677000													3	24					0	0	0.150653	0	0
ERBB3	2065	broad.mit.edu	37	12	56495415	56495415	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:56495415G>A	ENST00000267101.3	+	28	4045	c.3605G>A	c.(3604-3606)cGg>cAg	p.R1202Q	ERBB3_ENST00000553131.1_Missense_Mutation_p.R443Q|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000450146.2_Missense_Mutation_p.R559Q|ERBB3_ENST00000549832.1_Missense_Mutation_p.R322Q|ERBB3_ENST00000415288.2_Missense_Mutation_p.R1143Q	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1202					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TACATGAACCGGAGGAGAAGG	0.537000													38	88					0	0	0.796494	0	0
CPS1	1373	broad.mit.edu	37	2	211518779	211518779	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:211518779G>C	ENST00000233072.5	+	29	3707	c.3511G>C	c.(3511-3513)Gaa>Caa	p.E1171Q	CPS1_ENST00000430249.2_Missense_Mutation_p.E1177Q|CPS1_ENST00000451903.2_Missense_Mutation_p.E720Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1171	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAAATTTGTTGAAGGGGCCCG	0.438000													21	99					0	0	0.608945	0	0
HNF1B	6928	broad.mit.edu	37	17	36104543	36104543	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:36104543G>A	ENST00000225893.4	-	1	694	c.333C>T	c.(331-333)gaC>gaT	p.D111D	HNF1B_ENST00000561193.1_Silent_p.D111D|HNF1B_ENST00000560016.1_Silent_p.D111D|HNF1B_ENST00000427275.2_Silent_p.D111D	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	111					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGAGCATCCGGTCCACCTCCG	0.706000													28	81					0	0	0.717897	0	0
WDR78	79819	broad.mit.edu	37	1	67340502	67340502	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:67340502G>A	ENST00000371026.3	-	5	817	c.762C>T	c.(760-762)gtC>gtT	p.V254V	WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Silent_p.V254V|WDR78_ENST00000371023.3_Silent_p.V254V	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	254										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CAGAGACCATGACTGTGGGCA	0.373000													49	151					0	0	0.870114	0	0
MTG1	92170	broad.mit.edu	37	10	135212703	135212703	+	Silent	SNP	G	G	C	rs142057422		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:135212703G>C	ENST00000468317.2	+	6	663	c.408G>C	c.(406-408)ggG>ggC	p.G136G	MTG1_ENST00000317502.6_Silent_p.G131G|MTG1_ENST00000477902.2_Silent_p.G90G																							AACTGATTGGGAGAAGCCACC	0.632000													29	29					0	0	0.788014	0	0
ASB1	51665	broad.mit.edu	37	2	239342304	239342304	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:239342304C>T	ENST00000264607.4	+	2	406	c.159C>T	c.(157-159)ctC>ctT	p.L53L	ASB1_ENST00000409297.1_Silent_p.L53L|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	53					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		TCCAGACCCTCAGGAGCCTAT	0.607000													24	64					0	0	0.729181	0	0
TMEM2	23670	broad.mit.edu	37	9	74365160	74365160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:74365160G>A	ENST00000377044.4	-	2	669	c.130C>T	c.(130-132)Caa>Taa	p.Q44*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.Q44*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	44						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCTGAAGCTTGACTCTTTGGA	0.507000													30	109					0	0	0.750413	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266316	43266316	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:43266316G>T	ENST00000372585.5	+	1	315	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	SLC22A7_ENST00000372589.3_Missense_Mutation_p.D74Y|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372574.3_Missense_Mutation_p.D74Y	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	74						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CCGGGAGCCTGATGGCACGCT	0.662000													34	64					1.26612e-14	1.33549e-14	0.779181	1	0
PI4KAP1	728233	broad.mit.edu	37	22	20394559	20394559	+	RNA	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:20394559C>G	ENST00000430523.3	-	0	636					NR_003563.1																						TTAAAGAAATCAAACTCCCGC	0.522000													21	90					0	0	0.639603	0	0
TTN	7273	broad.mit.edu	37	2	179639765	179639765	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179639765C>G	ENST00000589042.1	-	29	6897	c.6673G>C	c.(6673-6675)Gac>Cac	p.D2225H	TTN_ENST00000460472.2_Missense_Mutation_p.D2179H|TTN_ENST00000360870.5_Missense_Mutation_p.D2225H|TTN_ENST00000591111.1_Missense_Mutation_p.D2225H|TTN_ENST00000342175.6_Missense_Mutation_p.D2179H|TTN_ENST00000342992.6_Missense_Mutation_p.D2225H|TTN_ENST00000359218.5_Missense_Mutation_p.D2179H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1962	Ig-like 11.						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)			ACCTTTCTGTCAGAGTGCATC	0.408000													28	99					0	0	0.706142	0	0
INADL	10207	broad.mit.edu	37	1	62455875	62455875	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:62455875G>C	ENST00000371158.2	+	28	3820	c.3706G>C	c.(3706-3708)Gaa>Caa	p.E1236Q	INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Missense_Mutation_p.E20Q|INADL_ENST00000316485.6_Missense_Mutation_p.E1236Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1236					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCTGCCTGGAGAACTGCACAT	0.343000													17	90					0	0	0.500413	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94881322	94881322	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:94881322C>G	ENST00000289495.5	+	10	2695	c.2479C>G	c.(2479-2481)Caa>Gaa	p.Q827E	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.Q827E|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.Q849E|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.Q827E|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.Q827E|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.Q827E	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	827	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAATGGGACTCAAGTTAACAA	0.398000										HNSCC(28;0.073)			21	90					0	0	0.608945	0	0
CHD1L	9557	broad.mit.edu	37	1	146763163	146763163	+	Splice_Site	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:146763163G>C	ENST00000369258.4	+	20	2340		c.e20-1		CHD1L_ENST00000361293.5_Splice_Site|CHD1L_ENST00000431239.1_Splice_Site|CHD1L_ENST00000467213.1_Splice_Site|CHD1L_ENST00000369259.3_Splice_Site	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like						chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TTTTACCTCAGACCTGAGTTT	0.398000													16	102					0	0	0.520397	0	0
ETV6	2120	broad.mit.edu	37	12	12022535	12022535	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:12022535C>A	ENST00000396373.4	+	5	915	c.641C>A	c.(640-642)cCg>cAg	p.P214Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	214						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CGCCTCTCCCCGGCTGAGAGA	0.637000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								4	232					0.150653	0.152135	0.150653	1	0
ZNF148	7707	broad.mit.edu	37	3	124951513	124951513	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:124951513G>C	ENST00000360647.4	-	9	2542	c.2057C>G	c.(2056-2058)tCa>tGa	p.S686*	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Nonsense_Mutation_p.S686*|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Nonsense_Mutation_p.S686*|ZNF148_ENST00000484491.1_Nonsense_Mutation_p.S686*	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	686					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						AAAGGGAAATGAGTGCTGTGA	0.448000													71	282					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9068706	9068706	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9068706G>C	ENST00000397910.4	-	3	18943	c.18740C>G	c.(18739-18741)tCt>tGt	p.S6247C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6249	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAAACAAGAGAGGAGGTACT	0.483000													34	80					0	0	0.769981	0	0
PTDSS1	9791	broad.mit.edu	37	8	97316403	97316403	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:97316403C>G	ENST00000517309.1	+	7	1214	c.888C>G	c.(886-888)atC>atG	p.I296M	PTDSS1_ENST00000455950.2_Missense_Mutation_p.I150M|PTDSS1_ENST00000522072.1_Missense_Mutation_p.I93M	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	296					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCATGATCATCTGGCAGGTAT	0.378000													4	388					0	0	0.150653	0	0
DRD5	1816	broad.mit.edu	37	4	9784235	9784235	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:9784235A>G	ENST00000304374.2	+	1	978	c.582A>G	c.(580-582)ccA>ccG	p.P194P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	194					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGGACCTGCCAAACAACCTGG	0.607000													38	49					0	0	0.804634	0	0
SPTBN4	57731	broad.mit.edu	37	19	41074133	41074133	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:41074133G>C	ENST00000352632.3	+	31	6987	c.6901G>C	c.(6901-6903)Gag>Cag	p.E2301Q	SPTBN4_ENST00000392025.1_Missense_Mutation_p.E1044Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E2301Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2301					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGGCGCTTGGAGCGGCAGGA	0.667000													2	9					0	0	0.115264	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149857978	149857978	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:149857978G>C	ENST00000369155.2	-	1	254	c.213C>G	c.(211-213)ttC>ttG	p.F71L		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	71					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.F71L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGATGCGCTCGAAGATGTCGT	0.622000													83	168					0	0	0.870114	0	0
ALMS1	7840	broad.mit.edu	37	2	73651682	73651682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:73651682C>T	ENST00000264448.6	+	5	1000	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q255*|ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Q297*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	297					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAGTGTATCTCAGCACCCGCT	0.448000													17	46					0	0	0.539581	0	0
PARPBP	55010	broad.mit.edu	37	12	102572517	102572517	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:102572517C>T	ENST00000327680.2	+	9	1373	c.910C>T	c.(910-912)Cat>Tat	p.H304Y	PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.H462Y|PARPBP_ENST00000392911.2_Missense_Mutation_p.H304Y|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000358383.5_Missense_Mutation_p.H385Y	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	385					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	p.H304Y(1)|p.H385Y(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						CACAATCCATCATCATGGAAC	0.323000													21	58					0	0	0.608945	0	0
PTN	5764	broad.mit.edu	37	7	137028320	137028320	+	Translation_Start_Site	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:137028320G>C	ENST00000348225.2	-	0	291				PTN_ENST00000393083.2_De_novo_Start_OutOfFrame	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin						nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CTTCTGGACGGATGACTCACT	0.607000													21	66					0	0	0.639603	0	0
PPP6R1	22870	broad.mit.edu	37	19	55756738	55756738	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55756738G>A	ENST00000412770.2	-	4	1013	c.447C>T	c.(445-447)ttC>ttT	p.F149F	PPP6R1_ENST00000587283.1_Silent_p.F149F	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	149	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						GCAGGTCCACGAAGTCATCCT	0.647000													8	16					0	0	0.335167	0	0
SNRPN	6638	broad.mit.edu	37	15	25223557	25223557	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:25223557C>T	ENST00000444203.2	+	8	1740	c.701C>T	c.(700-702)cCa>cTa	p.P234L	SNRPN_ENST00000554227.2_Missense_Mutation_p.P234L|SNRPN_ENST00000346403.6_Missense_Mutation_p.P230L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P230L|SNRPN_ENST00000400097.1_Missense_Mutation_p.P230L|SNRPN_ENST00000400100.1_Missense_Mutation_p.P230L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P230L|SNRPN_ENST00000400098.1_Missense_Mutation_p.P230L|SNURF_ENST00000338094.6_3'UTR			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	230	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TTTCCAGGTCCACCTCCCCCA	0.473000									Prader-Willi syndrome				85	285					0	0	0.870114	0	0
DOCK8	81704	broad.mit.edu	37	9	376246	376246	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:376246G>A	ENST00000432829.2	+	19	2258	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	DOCK8_ENST00000453981.1_Missense_Mutation_p.E716K|DOCK8_ENST00000382331.1_Missense_Mutation_p.E18K|DOCK8_ENST00000469391.1_Missense_Mutation_p.E648K|DOCK8_ENST00000382329.1_Missense_Mutation_p.E183K	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	716					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TAAGTGGGCTGAAGGACATAA	0.378000													7	152					0	0	0.278610	0	0
PTEN	5728	broad.mit.edu	37	10	89624268	89624268	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:89624268G>T	ENST00000371953.3	+	1	1399	c.42G>T	c.(40-42)agG>agT	p.R14S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	14	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.R14fs*29(1)|p.R14fs*26(1)|p.I8_R14>LRLICIF(1)|p.N12fs*6(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAAACAAAAGGAGATATCAAG	0.478000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			61	56					6.2918e-36	6.8235e-36	0.870114	1	0
SLC29A4	222962	broad.mit.edu	37	7	5340094	5340094	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:5340094G>C	ENST00000396872.2	+	10	1412	c.1251G>C	c.(1249-1251)ctG>ctC	p.L417L	SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Silent_p.L403L|SLC29A4_ENST00000297195.4_Silent_p.L417L	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	417					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCACCCACCTGCTGGCCTGCT	0.706000													28	68					0	0	0.760397	0	0
MAN2A1	4124	broad.mit.edu	37	5	109181672	109181672	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:109181672C>G	ENST00000261483.4	+	18	3859	c.2807C>G	c.(2806-2808)tCt>tGt	p.S936C		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	936					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			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACACTGCTCTCTGCTCAGTCA	0.413000													8	299					0	0	0.387290	0	0
CACNA1I	8911	broad.mit.edu	37	22	40060842	40060842	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:40060842C>G	ENST00000336649.4	+	24	3783	c.3783C>G	c.(3781-3783)atC>atG	p.I1261M	CACNA1I_ENST00000407673.1_Missense_Mutation_p.I1220M|CACNA1I_ENST00000402142.3_Missense_Mutation_p.I1255M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.I1255M|CACNA1I_ENST00000400164.3_Missense_Mutation_p.I1220M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I1220M			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1255					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCATCGACATCGTGGTGTCCC	0.642000													11	61					0	0	0.361761	0	0
DCDC1	341019	broad.mit.edu	37	11	31312293	31312293	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:31312293C>T	ENST00000597505.1	-	5	860	c.861G>A	c.(859-861)aaG>aaA	p.K287K	DCDC1_ENST00000452803.1_Silent_p.K287K			P59894	DCDC1_HUMAN	doublecortin domain containing 1	287					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGTAAGTTTCTTCATTCTAA	0.388000													38	94					0	0	0.834066	0	0
C19orf35	374872	broad.mit.edu	37	19	2275792	2275792	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:2275792C>G	ENST00000342063.3	-	4	1402	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	437										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		GCGGCCCGCTCTGCTAGGCGC	0.741000													3	5					0	0	0.150653	0	0
ATRN	8455	broad.mit.edu	37	20	3581669	3581669	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:3581669C>G	ENST00000262919.5	+	23	3709	c.3641C>G	c.(3640-3642)tCa>tGa	p.S1214*	ATRN_ENST00000446916.2_Nonsense_Mutation_p.S1214*	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1214					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCAGTTTCTCAGGTAAAGAC	0.423000													7	126					0	0	0.307466	0	0
GSKIP	51527	broad.mit.edu	37	14	96848583	96848583	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:96848583G>A	ENST00000556095.1	+	3	1811		c.e3-1		GSKIP_ENST00000438650.1_Splice_Site|GSKIP_ENST00000554182.1_Splice_Site|GSKIP_ENST00000555181.1_Splice_Site	NM_001271904.1	NP_001258833.1			GSK3B interacting protein																		TTTTTTTACAGAATGGAAACA	0.333000													34	31					0	0	0.788014	0	0
MACF1	23499	broad.mit.edu	37	1	39806314	39806314	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:39806314G>C	ENST00000564288.1	+	39	11133	c.10356G>C	c.(10354-10356)caG>caC	p.Q3452H	MACF1_ENST00000372915.3_Missense_Mutation_p.Q3457H|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.Q3489H|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.Q1892H|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3457					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAATCTTCAGAAGTCTCTCA	0.433000													17	70					0	0	0.557998	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87151798	87151798	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:87151798G>C	ENST00000285393.3	+	3	557	c.415G>C	c.(415-417)Gaa>Caa	p.E139Q	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	139					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CACAGAAATGGAAGCTGTCAA	0.428000													38	226					0	0	0.834066	0	0
OASL	8638	broad.mit.edu	37	12	121469368	121469368	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:121469368G>C	ENST00000257570.5	-	3	804	c.534C>G	c.(532-534)atC>atG	p.I178M	OASL_ENST00000339275.5_Missense_Mutation_p.I178M	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	178					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCAGGCCTTGATCAGGCTCA	0.557000													45	86					0	0	0.853193	0	0
HEG1	57493	broad.mit.edu	37	3	124732246	124732246	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:124732246G>C	ENST00000311127.4	-	6	2244	c.2177C>G	c.(2176-2178)tCt>tGt	p.S726C		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	726	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGCAGATGTAGATGTCGTTAA	0.502000													42	176					0	0	0.847076	0	0
POTEC	388468	broad.mit.edu	37	18	14542978	14542978	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:14542978C>T	ENST00000358970.5	-	1	167	c.168G>A	c.(166-168)atG>atA	p.M56I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	56										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCCTGAGCATCTTCATAA	0.587000													59	621					0	0	0.870114	0	0
BMP5	653	broad.mit.edu	37	6	55638959	55638959	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:55638959G>C	ENST00000370830.3	-	4	1613	c.915C>G	c.(913-915)ttC>ttG	p.F305L	BMP5_ENST00000446683.2_Missense_Mutation_p.F305L	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	305					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTCGCCTTGAAGAAGGCCA	0.453000													126	221					0	0	0.870114	0	0
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:7577556C>A	ENST00000420246.2	-	7	857	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000455263.2_Missense_Mutation_p.C242F|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000445888.2_Missense_Mutation_p.C242F|TP53_ENST00000359597.4_Missense_Mutation_p.C242F|TP53_ENST00000269305.4_Missense_Mutation_p.C242F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCGCCCATGCAGGAACTGTT	0.577000		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)			38	46					1.30475e-32	1.40881e-32	0.847076	1	0
PNLIPRP2	5408	broad.mit.edu	37	10	118386480	118386480	+	RNA	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:118386480G>C	ENST00000537242.1	+	0	462				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	p.E146*(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGTTGGGGCGGAGACAGCTTT	0.577000													15	16					0	0	0.500413	0	0
MBTPS1	8720	broad.mit.edu	37	16	84125404	84125404	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:84125404T>C	ENST00000343411.3	-	7	1391	c.896A>G	c.(895-897)aAg>aGg	p.K299R	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	299	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTCGATCTTCTTTAAAATGGC	0.423000													15	83					0	0	0.500413	0	0
MORC1	27136	broad.mit.edu	37	3	108812388	108812388	+	Splice_Site	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108812388C>T	ENST00000232603.5	-	8	666	c.583_splice	c.e8-1	p.G195_splice	MORC1_ENST00000483760.1_Splice_Site_p.G195_splice	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	195					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAGCAAAGTACCTGGTAGAAA	0.348000													41	51					0	0	0.827153	0	0
SYTL2	54843	broad.mit.edu	37	11	85436774	85436774	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:85436774C>T	ENST00000359152.5	-	1	2297	c.2298G>A	c.(2296-2298)ttG>ttA	p.L766L	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Silent_p.L242L|SYTL2_ENST00000525423.1_Silent_p.L242L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	278					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GACTAGCAGTCAAAGAGTTCC	0.438000													57	189					0	0	0.870114	0	0
C21orf33	8209	broad.mit.edu	37	21	45554008	45554008	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45554008G>A	ENST00000291577.6	+	2	259	c.166G>A	c.(166-168)Gat>Aat	p.D56N	C21orf33_ENST00000348499.5_Missense_Mutation_p.D56N|C21orf33_ENST00000427803.2_Missense_Mutation_p.D56N|C21orf33_ENST00000493883.1_Intron	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	56						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CGGAGTCTACGATGGGACCGA	0.672000													7	29					0	0	0.278610	0	0
RRP1B	23076	broad.mit.edu	37	21	45107740	45107740	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45107740G>A	ENST00000340648.4	+	13	1602	c.1485G>A	c.(1483-1485)gaG>gaA	p.E495E		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	495					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TGCCCCCAGAGGACATGTCTC	0.577000													24	98					0	0	0.639603	0	0
PLXNA3	55558	broad.mit.edu	37	X	153693806	153693806	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:153693806G>A	ENST00000369682.3	+	12	2459	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	762					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCGAGCTGGACTTCTCCGT	0.552000													56	40					0	0	0.870114	0	0
CELSR2	1952	broad.mit.edu	37	1	109806290	109806290	+	Missense_Mutation	SNP	C	C	G	rs139381040		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:109806290C>G	ENST00000271332.3	+	9	4953	c.4892C>G	c.(4891-4893)tCg>tGg	p.S1631W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1631	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATGGCCTCTCGCTGCCCATC	0.652000											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	124					0	0	0.870114	0	0
ECHDC2	55268	broad.mit.edu	37	1	53373583	53373583	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:53373583C>G	ENST00000536120.1	-	7	1000	c.183G>C	c.(181-183)gtG>gtC	p.V61V	ECHDC2_ENST00000358358.5_Silent_p.V107V|ECHDC2_ENST00000371522.4_Silent_p.V107V|ECHDC2_ENST00000541281.1_Silent_p.V61V			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	107					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CAAACACCCCCACCTCTGCTT	0.592000													13	103					0	0	0.479597	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129959708	129959708	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:129959708C>G	ENST00000368149.2	-	3	471	c.383G>C	c.(382-384)gGa>gCa	p.G128A		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	128					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTGTGGATCTCCAGCAGACTC	0.473000													48	102					0	0	0.870114	0	0
COL12A1	1303	broad.mit.edu	37	6	75833986	75833986	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:75833986G>C	ENST00000322507.8	-	41	7018	c.6709C>G	c.(6709-6711)Cta>Gta	p.L2237V	COL12A1_ENST00000416123.2_Missense_Mutation_p.L2237V|COL12A1_ENST00000345356.6_Missense_Mutation_p.L1073V|COL12A1_ENST00000483888.2_Missense_Mutation_p.L2237V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2237	Fibronectin type-III 18.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCAGGGCTTAGTTTTAGCCTG	0.378000													4	116					0	0	0.150653	0	0
NPAP1	23742	broad.mit.edu	37	15	24924415	24924415	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:24924415A>G	ENST00000329468.2	+	1	3875	c.3401A>G	c.(3400-3402)tAc>tGc	p.Y1134C		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGAAAATTCTACACTTCAAGC	0.483000													46	138					0	0	0.859065	0	0
DHX29	54505	broad.mit.edu	37	5	54569133	54569133	+	Silent	SNP	T	T	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:54569133T>A	ENST00000251636.5	-	17	2911	c.2763A>T	c.(2761-2763)ccA>ccT	p.P921P	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	921	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCCTGACTCCTGGAGGGGGAA	0.363000													27	70					0	0	0.740014	0	0
MGEA5	10724	broad.mit.edu	37	10	103558920	103558920	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:103558920C>G	ENST00000361464.3	-	9	1883	c.1488G>C	c.(1486-1488)ttG>ttC	p.L496F	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.L443F|MGEA5_ENST00000439817.1_Missense_Mutation_p.L443F|MGEA5_ENST00000370094.3_Missense_Mutation_p.L496F	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	496					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CCATTGGTTTCAATTCCTCTG	0.413000													5	477					0	0	0.184627	0	0
LRRN4	164312	broad.mit.edu	37	20	6021786	6021786	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:6021786G>A	ENST00000378858.4	-	5	2329	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	702						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GAGACATGCGGACAGCACCAC	0.687000													9	16					0	0	0.335167	0	0
CXXC1	30827	broad.mit.edu	37	18	47810269	47810269	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:47810269C>T	ENST00000285106.6	-	10	2122	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	CXXC1_ENST00000589940.1_Missense_Mutation_p.E470K|CXXC1_ENST00000412036.2_Missense_Mutation_p.E474K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	470					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTCACCTCCTCATCCTCGCGC	0.582000													86	159					0	0	0.870114	0	0
B4GALT2	8704	broad.mit.edu	37	1	44456112	44456112	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:44456112C>T	ENST00000356836.6	+	7	1901	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	B4GALT2_ENST00000434555.2_Missense_Mutation_p.R305W|B4GALT2_ENST00000372324.1_Missense_Mutation_p.R371W|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R400W	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	371					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GTGGCCCCCTCGGGGCTGACA	0.622000													14	274					0	0	0.457914	0	0
SLC5A12	159963	broad.mit.edu	37	11	26700349	26700349	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:26700349C>T	ENST00000396005.3	-	13	1798	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	497					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TACCAGGTATCAGCTATTCCA	0.468000													25	81					0	0	0.681144	0	0
HCN1	348980	broad.mit.edu	37	5	45262789	45262789	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:45262789A>T	ENST00000303230.4	-	8	1964	c.1907T>A	c.(1906-1908)aTc>aAc	p.I636N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	636						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GATGGGAGCGATTGCCTGCAC	0.478000													41	139					0	0	0.870114	0	0
TIMD4	91937	broad.mit.edu	37	5	156381666	156381666	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:156381666A>T	ENST00000274532.2	-	2	216	c.160T>A	c.(160-162)Tgg>Agg	p.W54R	TIMD4_ENST00000407087.3_Missense_Mutation_p.W54R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	54	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTTCCCCCAGCACATGCTG	0.527000													35	85					0	0	0.796494	0	0
IGSF5	150084	broad.mit.edu	37	21	41165472	41165472	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:41165472C>G	ENST00000380588.4	+	8	1163	c.1060C>G	c.(1060-1062)Ctc>Gtc	p.L354V		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	354						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CACCGCTTCTCTCCCTCCCAA	0.423000													31	99					0	0	0.740014	0	0
ADAM12	8038	broad.mit.edu	37	10	127806646	127806646	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:127806646C>G	ENST00000368679.4	-	6	882	c.573G>C	c.(571-573)aaG>aaC	p.K191N	ADAM12_ENST00000368676.4_Missense_Mutation_p.K191N	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	191					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.K191N(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GAAACACATTCTTTGCAGCGA	0.493000													33	311					0	0	0.796494	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239639	1239639	+	Silent	SNP	C	C	T	rs137936927	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:1239639C>T	ENST00000324642.3	+	6	930	c.807C>T	c.(805-807)ttC>ttT	p.F269F	SLC6A18_ENST00000296821.4_Silent_p.F264F	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	269					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCTGGCCTTCGGAGGACACA	0.592000													6	259					0	0	0.248553	0	0
LRP2	4036	broad.mit.edu	37	2	170139405	170139405	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:170139405C>G	ENST00000263816.3	-	10	1434	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	LRP2_ENST00000443831.1_Missense_Mutation_p.Q383H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	383	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)	CTTTGCAATACTGTCCACGCT	0.448000													52	197					0	0	0.870114	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570614	20570614	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:20570614C>G	ENST00000329697.6	-	3	501	c.333G>C	c.(331-333)gtG>gtC	p.V111V	ACSM2B_ENST00000565232.1_Silent_p.V111V|ACSM2B_ENST00000565322.1_Silent_p.V32V|ACSM2B_ENST00000414188.2_Silent_p.V111V|ACSM2B_ENST00000567001.1_Silent_p.V111V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	111					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGGGCAGCATCACTGCCACAC	0.552000													15	36					0	0	0.557998	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081966	53081966	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:53081966G>C	ENST00000305901.5	-	1	243	c.116C>G	c.(115-117)gCg>gGg	p.A39G	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	39					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GCCGCGGTGCGCCACGGAGCT	0.756000													4	4					0	0	0.184627	0	0
PPL	5493	broad.mit.edu	37	16	4944472	4944472	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4944472C>G	ENST00000345988.2	-	12	1479	c.1390G>C	c.(1390-1392)Gac>Cac	p.D464H	PPL_ENST00000590782.2_Missense_Mutation_p.D462H	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	464					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TTGTACCTGTCAGCCAGAGCC	0.627000													25	57					0	0	0.693898	0	0
SPICE1	152185	broad.mit.edu	37	3	113172409	113172409	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:113172409G>C	ENST00000295872.4	-	14	2305	c.2046C>G	c.(2044-2046)atC>atG	p.I682M		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	682					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TATGTGCCTTGATAGCTGAAT	0.418000													114	155					0	0	0.870114	0	0
EDN2	1907	broad.mit.edu	37	1	41946860	41946860	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:41946860C>G	ENST00000372587.4	-	4	418	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	117					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCGGCTTCAGTCCTACGT	0.632000													35	95					0	0	0.796494	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140732048	140732048	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140732048G>A	ENST00000523390.1	+	1	2221	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCACAGCGAGGGGACTTT	0.562000													27	129					0	0	0.667858	0	0
RC3H2	54542	broad.mit.edu	37	9	125642045	125642045	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:125642045C>G	ENST00000373670.1	-	7	1801	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	RC3H2_ENST00000373665.2_Missense_Mutation_p.E401Q|RC3H2_ENST00000357244.2_Missense_Mutation_p.E401Q|RC3H2_ENST00000423239.2_Missense_Mutation_p.E401Q|RC3H2_ENST00000335387.5_Missense_Mutation_p.E401Q			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	401						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGAGGGGTCTCATGGCCTTTT	0.393000													20	62					0	0	0.575678	0	0
PEX5L	51555	broad.mit.edu	37	3	179597738	179597738	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:179597738C>G	ENST00000467460.1	-	5	814	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000465751.1_Missense_Mutation_p.E138Q|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000263962.8_Missense_Mutation_p.E160Q|PEX5L_ENST00000485199.1_Missense_Mutation_p.E127Q|PEX5L_ENST00000476138.1_Missense_Mutation_p.E119Q|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000472994.1_Missense_Mutation_p.E103Q	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	162					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GATGAAGTCTCCGGGACTCTG	0.512000													30	177					0	0	0.750413	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755614	140755614	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140755614C>T	ENST00000517434.1	+	1	1964	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCCTCTCTCCGCCACTGTC	0.706000													8	40					0	0	0.387290	0	0
TBXAS1	6916	broad.mit.edu	37	7	139572057	139572057	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:139572057G>C	ENST00000263552.6	+	6	654	c.116G>C	c.(115-117)aGa>aCa	p.R39T	TBXAS1_ENST00000411653.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000425687.1_5'UTR|TBXAS1_ENST00000436047.2_Missense_Mutation_p.R39T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000336425.5_Missense_Mutation_p.R38T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.R39T|TBXAS1_ENST00000416849.2_Missense_Mutation_p.R39T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000455353.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000539806.1_Missense_Mutation_p.R39T	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	38					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GCATTCTCAAGACTGGAGAAG	0.443000													62	162					0	0	0.870114	0	0
SF3A3	10946	broad.mit.edu	37	1	38449853	38449853	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:38449853C>T	ENST00000373019.4	-	6	1411	c.456G>A	c.(454-456)ctG>ctA	p.L152L	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Silent_p.L99L	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	152					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAGATGCCTTCAGGTTAATGT	0.468000													9	42					0	0	0.335167	0	0
CD300LG	146894	broad.mit.edu	37	17	41926060	41926060	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:41926060C>A	ENST00000317310.4	+	2	219	c.178C>A	c.(178-180)Cgc>Agc	p.R60S	CD300LG_ENST00000293396.8_Missense_Mutation_p.R60S|CD300LG_ENST00000588884.1_Missense_Mutation_p.R60S|CD300LG_ENST00000586233.1_Missense_Mutation_p.R60S|CD300LG_ENST00000539718.1_Missense_Mutation_p.R60S|CD300LG_ENST00000377203.4_Missense_Mutation_p.R60S	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	60	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTCTTCTCTCGCTGCTCTGG	0.592000													4	126					0.150653	0.152135	0.150653	1	0
FLG	2312	broad.mit.edu	37	1	152286973	152286973	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152286973C>G	ENST00000368799.1	-	3	424	c.389G>C	c.(388-390)aGa>aCa	p.R130T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	130					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)			ATTGTTTCTTCTTTCCAGACT	0.373000									Ichthyosis				84	198					0	0	0.870114	0	0
RANBP10	57610	broad.mit.edu	37	16	67760383	67760383	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:67760383C>T	ENST00000317506.3	-	14	1926	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	RANBP10_ENST00000536251.1_Missense_Mutation_p.R375Q|RANBP10_ENST00000448631.2_Missense_Mutation_p.R578Q|RANBP10_ENST00000411657.2_Missense_Mutation_p.R517Q|RANBP10_ENST00000602677.1_Missense_Mutation_p.R634Q	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	604										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CAGGCCTGCTCGGGCCATGAG	0.622000													3	22					0	0	0.115264	0	0
GGNBP2	79893	broad.mit.edu	37	17	34942500	34942500	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:34942500C>T	ENST00000304718.4	+	12	1829	c.1513C>T	c.(1513-1515)Cac>Tac	p.H505Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	505					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTGTGTTCATCACTGTGAAGA	0.353000													8	218					0	0	0.307466	0	0
HYDIN	54768	broad.mit.edu	37	16	71054112	71054112	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:71054112C>T	ENST00000393567.2	-	22	3445	c.3295G>A	c.(3295-3297)Gag>Aag	p.E1099K	HYDIN_ENST00000448089.2_Missense_Mutation_p.E1051K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1099								p.E1051Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTATCAGTCTCACATATAAAG	0.507000													10	24					0	0	0.411799	0	0
OLA1	29789	broad.mit.edu	37	2	175006586	175006586	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:175006586C>G	ENST00000284719.3	-	5	762	c.516G>C	c.(514-516)gtG>gtC	p.V172V	OLA1_ENST00000428402.2_Silent_p.V172V|OLA1_ENST00000409546.1_Silent_p.V192V|OLA1_ENST00000344357.5_Silent_p.V14V	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	172					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CTCCTCCTCTCACAGCCACCT	0.294000													29	135					0	0	0.750413	0	0
POLR2D	5433	broad.mit.edu	37	2	128610608	128610608	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:128610608C>G	ENST00000272645.4	-	2	201	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	POLR2D_ENST00000409955.1_Missense_Mutation_p.E49Q|POLR2D_ENST00000487079.1_Intron|POLR2D_ENST00000409698.1_Missense_Mutation_p.E11Q	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	49					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding			large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		TCTGCACTCTCATTCTGCTGC	0.418000													51	217					0	0	0.870114	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149590	45149590	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:45149590C>G	ENST00000458659.2	-	1	1111	c.621G>C	c.(619-621)caG>caC	p.Q207H	TSC22D1_ENST00000501704.2_Missense_Mutation_p.Q207H	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	207	His-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCACAACATTCTGTTGTGGAA	0.527000													10	33					0	0	0.411799	0	0
SYNE2	23224	broad.mit.edu	37	14	64669652	64669652	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:64669652G>C	ENST00000357395.3	+	101	18471	c.7327G>C	c.(7327-7329)Gag>Cag	p.E2443Q	SYNE2_ENST00000394768.2_Missense_Mutation_p.E2443Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6058Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2692Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6058Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6020Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6058					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGATGATCAAGAGATCCAGAA	0.512000													53	43					0	0	0.870114	0	0
XPOT	11260	broad.mit.edu	37	12	64818849	64818849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:64818849G>T	ENST00000332707.5	+	13	1868	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	447	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TATGGAAGTTGAAGTAGCAAT	0.383000													61	143					2.73361e-28	2.93875e-28	0.870114	1	0
ZNF232	7775	broad.mit.edu	37	17	5012997	5012997	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:5012997C>G	ENST00000250076.3	-	3	844	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	ZNF232_ENST00000416429.2_Missense_Mutation_p.E37Q|ZNF232_ENST00000575898.1_Missense_Mutation_p.E64Q|ZNF232_ENST00000575538.1_Intron	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	37	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						AGCCTGGTCTCATACTCACAA	0.537000													29	91					0	0	0.729181	0	0
PHAX	51808	broad.mit.edu	37	5	125939416	125939416	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:125939416G>C	ENST00000297540.4	+	2	946	c.251G>C	c.(250-252)cGa>cCa	p.R84P	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	84	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						AAACGCAAACGACAGAAATGT	0.418000													18	116					0	0	0.539581	0	0
ALAS1	211	broad.mit.edu	37	3	52240616	52240616	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:52240616C>T	ENST00000394965.2	+	8	1374	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	ALAS1_ENST00000484952.1_Silent_p.N338N|ALAS1_ENST00000469224.1_Silent_p.N338N|ALAS1_ENST00000310271.2_Silent_p.N338N	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	338					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ATTCTGGGAACCATGCCTCCA	0.438000													83	111					0	0	0.870114	0	0
C7orf63	79846	broad.mit.edu	37	7	89906554	89906554	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:89906554G>C	ENST00000389297.4	+	11	1312	c.1061G>C	c.(1060-1062)gGa>gCa	p.G354A	C7orf63_ENST00000497910.1_Missense_Mutation_p.G336A|C7orf63_ENST00000316089.8_Missense_Mutation_p.G354A	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	354							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTGGTAAAAGGACTTAAGCTT	0.274000													9	70					0	0	0.335167	0	0
MCM3	4172	broad.mit.edu	37	6	52133882	52133882	+	Splice_Site	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:52133882A>G	ENST00000596288.1	-	13	2131		c.e13+1		MCM3_ENST00000419835.2_Splice_Site|MCM3_ENST00000229854.7_Splice_Site	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CTGAATCCTCACCTTCTTAAA	0.532000													62	140					0	0	0.870114	0	0
ZNF473	25888	broad.mit.edu	37	19	50549104	50549104	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:50549104C>T	ENST00000595661.1	+	6	1899	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.F468F|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Silent_p.F468F|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.F456F			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	468	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGGAGTTTCAGCCGGCCCT	0.522000													11	38					0	0	0.361761	0	0
EMILIN1	11117	broad.mit.edu	37	2	27305913	27305913	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:27305913C>G	ENST00000380320.4	+	4	1973	c.1474C>G	c.(1474-1476)Caa>Gaa	p.Q492E		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	492					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGACTCTCAAGTCAGCGA	0.692000													5	16					0	0	0.217242	0	0
CXorf21	80231	broad.mit.edu	37	X	30578276	30578276	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:30578276G>C	ENST00000378962.3	-	3	519	c.197C>G	c.(196-198)tCt>tGt	p.S66C		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	66										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ATGCACTGAAGAGATAAACTT	0.458000													110	98					0	0	0.870114	0	0
MAP3K13	9175	broad.mit.edu	37	3	185198141	185198141	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:185198141G>A	ENST00000265026.3	+	13	2957	c.2623G>A	c.(2623-2625)Gat>Aat	p.D875N	MAP3K13_ENST00000443863.1_Missense_Mutation_p.D731N|MAP3K13_ENST00000535426.1_Missense_Mutation_p.D731N|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D875N|MAP3K13_ENST00000446828.1_Missense_Mutation_p.D668N|TMEM41A_ENST00000475480.1_5'UTR	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	875					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGAGTTAGCTGATAAACTTGA	0.483000													82	211					0	0	0.870114	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26238784	26238784	+	RNA	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:26238784C>G	ENST00000519902.1	-	0	1164																											AGCAAAGGCTCTTCTGAAGTT	0.393000													13	28					0	0	0.435327	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261954	1261954	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:1261954G>C	ENST00000348261.5	+	25	4823	c.4575G>C	c.(4573-4575)caG>caC	p.Q1525H	CACNA1H_ENST00000565831.1_Missense_Mutation_p.Q1525H|CACNA1H_ENST00000358590.4_Missense_Mutation_p.Q1525H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1525					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGCCTGTGCAGAACCACAACC	0.652000													41	111					0	0	0.834066	0	0
CYFIP1	23191	broad.mit.edu	37	15	22993080	22993080	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:22993080G>A	ENST00000313077.7	+	26	3092	c.2967G>A	c.(2965-2967)ctG>ctA	p.L989L	CYFIP1_ENST00000435939.2_Silent_p.L558L|CYFIP1_ENST00000560848.1_Silent_p.L989L	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	989					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACGCAGAGCTGAAGACGGTGT	0.647000													50	126					0	0	0.870114	0	0
RABL6	55684	broad.mit.edu	37	9	139720263	139720263	+	Translation_Start_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:139720263G>A	ENST00000371675.3	+	0	755				RABL6_ENST00000432842.2_Missense_Mutation_p.D62N|RABL6_ENST00000311502.7_Missense_Mutation_p.D100N|RABL6_ENST00000357466.2_Missense_Mutation_p.D100N|RABL6_ENST00000371671.4_Missense_Mutation_p.D100N|RABL6_ENST00000371663.4_Missense_Mutation_p.D100N					RAB, member RAS oncogene family-like 6																		TGAAGTCTGGGATGTAGTAGA	0.532000													6	338					0	0	0.278610	0	0
GSC	145258	broad.mit.edu	37	14	95235376	95235376	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:95235376G>A	ENST00000238558.3	-	2	743	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	178					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		TCTCCTGGAAGAGGTTCTCGA	0.667000													7	8					0	0	0.248553	0	0
TIAM1	7074	broad.mit.edu	37	21	32503217	32503217	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:32503217C>G	ENST00000286827.3	-	25	4404	c.3933G>C	c.(3931-3933)aaG>aaC	p.K1311N	TIAM1_ENST00000541036.1_Missense_Mutation_p.K1251N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1311	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAAGTTTCTTCTTCTGTTTGG	0.348000													18	66					0	0	0.557998	0	0
TTN	7273	broad.mit.edu	37	2	179650577	179650577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179650577G>A	ENST00000589042.1	-	14	2592	c.2368C>T	c.(2368-2370)Cag>Tag	p.Q790*	TTN_ENST00000460472.2_Nonsense_Mutation_p.Q744*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Q790*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q790*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q744*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q790*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q744*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	790							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)			AGACTCACCTGTGATGATATG	0.438000													33	68					0	0	0.750413	0	0
MNX1	3110	broad.mit.edu	37	7	156802973	156802973	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:156802973C>G	ENST00000252971.6	-	1	372	c.72G>C	c.(70-72)caG>caC	p.Q24H		NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	24				DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPH EPPLAERALAKVTSPPVP (in Ref. 1; AAB60647).	humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGCGCGCTCTGCGCAGAGG	0.726000													3	13					0	0	0.184627	0	0
KCNJ13	3769	broad.mit.edu	37	2	233635840	233635840	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:233635840A>G	ENST00000233826.3	-	2	372	c.233T>C	c.(232-234)cTg>cCg	p.L78P	GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.L78P|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000409779.1_Intron	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	78						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		CATCTCAGCCAGAACATACCA	0.468000													20	73					0	0	0.557998	0	0
KPNB1	3837	broad.mit.edu	37	17	45757436	45757436	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45757436G>C	ENST00000290158.4	+	20	2811	c.2404G>C	c.(2404-2406)Gac>Cac	p.D802H	KPNB1_ENST00000535458.2_Missense_Mutation_p.D657H|KPNB1_ENST00000537679.1_Missense_Mutation_p.D586H|KPNB1_ENST00000540627.1_Missense_Mutation_p.D657H	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	802					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GTCTTTCATTGACCACATTGC	0.453000													68	183					0	0	0.870114	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975985	32975985	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:32975985C>G	ENST00000229829.5	-	2	211	c.136G>C	c.(136-138)Ggc>Cgc	p.G46R	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.G16R	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	46	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GTGAACTGGCCCGAGGCGCCG	0.547000													38	30					0	0	0.812448	0	0
CPNE4	131034	broad.mit.edu	37	3	131404721	131404721	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:131404721C>T	ENST00000512055.1	-	10	2715	c.589G>A	c.(589-591)Gag>Aag	p.E197K	CPNE4_ENST00000512332.1_Missense_Mutation_p.E215K|CPNE4_ENST00000429747.1_Missense_Mutation_p.E197K|CPNE4_ENST00000502818.1_Missense_Mutation_p.E215K|CPNE4_ENST00000511604.1_Missense_Mutation_p.E197K			Q96A23	CPNE4_HUMAN	copine IV	197	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACTCTTACCTCAGTTCGGTGC	0.388000													15	85					0	0	0.539581	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147555	26147555	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:26147555G>C	ENST00000331351.5	+	2	1749	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	453					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GGAACAGGAAGAGGGTGATAA	0.463000													7	30					0	0	0.335167	0	0
TTF1	7270	broad.mit.edu	37	9	135277284	135277284	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:135277284C>G	ENST00000334270.2	-	2	964	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	309					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GGCCGGGATTCCTGCATATCA	0.448000													5	319					0	0	0.184627	0	0
C11orf49	79096	broad.mit.edu	37	11	47176813	47176813	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:47176813G>A	ENST00000395460.2	+	5	489		c.e5+1		C11orf49_ENST00000543718.1_Splice_Site|C11orf49_ENST00000536126.1_Splice_Site|C11orf49_ENST00000378615.3_Splice_Site|C11orf49_ENST00000378618.2_Splice_Site|C11orf49_ENST00000527268.1_Splice_Site|C11orf49_ENST00000278460.7_Splice_Site	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TACTACTCAGGTGAGTGTTCC	0.542000													64	217					0	0	0.870114	0	0
TRIM51	84767	broad.mit.edu	37	11	55659078	55659078	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55659078C>T	ENST00000449290.2	+	7	1421	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	TRIM51_ENST00000244891.3_Silent_p.L300L	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	443	B30.2/SPRY.					intracellular	zinc ion binding										CACCTCCTCTCAGGCCTATCT	0.453000													51	266					0	0	0.870114	0	0
EEF2	1938	broad.mit.edu	37	19	3982347	3982347	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:3982347C>T	ENST00000309311.6	-	5	776	c.688G>A	c.(688-690)Gag>Aag	p.E230K		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	230						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATACATCTCGGCAAACTGC	0.597000													34	87					0	0	0.788014	0	0
CEP135	9662	broad.mit.edu	37	4	56847543	56847543	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:56847543G>C	ENST00000257287.4	+	13	1901	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	593					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAAATTAGAGGTAAGAAG	0.323000													50	164					0	0	0.870114	0	0
SMC4	10051	broad.mit.edu	37	3	160120484	160120484	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:160120484G>A	ENST00000357388.3	+	4	790	c.339G>A	c.(337-339)ggG>ggA	p.G113G	SMC4_ENST00000360111.2_Silent_p.G113G|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Silent_p.G113G|SMC4_ENST00000462787.1_Silent_p.G113G|SMC4_ENST00000469762.1_Silent_p.G88G	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	113					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTATTATCGGGCCAAATGGCA	0.328000													8	416					0	0	0.361761	0	0
FAM13B	51306	broad.mit.edu	37	5	137275949	137275949	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:137275949G>C	ENST00000033079.3	-	23	3164	c.2713C>G	c.(2713-2715)Ctt>Gtt	p.L905V	PKD2L2_ENST00000508638.1_3'UTR|FAM13B_ENST00000425075.2_Missense_Mutation_p.L781V|FAM13B_ENST00000420893.2_Missense_Mutation_p.L877V|PKD2L2_ENST00000290431.5_3'UTR|PKD2L2_ENST00000508883.1_Intron|PKD2L2_ENST00000502810.1_3'UTR	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	905					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TTGCTTATAAGAACTTCAAGA	0.373000													28	67					0	0	0.681144	0	0
C6orf118	168090	broad.mit.edu	37	6	165693562	165693562	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:165693562C>G	ENST00000230301.8	-	9	1414	c.1394G>C	c.(1393-1395)aGa>aCa	p.R465T	C6orf118_ENST00000491176.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	465										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCTGTTTCCTCTGATTTTACA	0.323000													27	63					0	0	0.740014	0	0
DZIP3	9666	broad.mit.edu	37	3	108393015	108393015	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108393015C>G	ENST00000361582.3	+	24	2910	c.2680C>G	c.(2680-2682)Cac>Gac	p.H894D	DZIP3_ENST00000463306.1_Missense_Mutation_p.H894D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	894					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CAGGGTGACTCACATGGCAGC	0.408000													38	167					0	0	0.812448	0	0
FER1L6	654463	broad.mit.edu	37	8	125103812	125103812	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:125103812G>A	ENST00000522917.1	+	34	4746	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	FER1L6_ENST00000399018.1_Missense_Mutation_p.E1514K|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1514						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TATCTTCACTGAAGAGGACAC	0.408000													34	157					0	0	0.788014	0	0
GIGYF1	64599	broad.mit.edu	37	7	100279772	100279772	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100279772C>T	ENST00000275732.5	-	22	4057	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	950										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTTTGGCTTCCAGCGTGTCC	0.597000													24	68					0	0	0.624587	0	0
SZT2	23334	broad.mit.edu	37	1	43907221	43907221	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:43907221C>T	ENST00000562955.1	+	53	7387	c.7387C>T	c.(7387-7389)Cct>Tct	p.P2463S	SZT2_ENST00000372442.1_Missense_Mutation_p.P1621S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2520						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACCCTTCATCCTGTGTTTGC	0.552000													96	381					0	0	0.870114	0	0
LCA5	167691	broad.mit.edu	37	6	80196747	80196747	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:80196747C>T	ENST00000392959.1	-	9	2679	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	LCA5_ENST00000369846.4_Missense_Mutation_p.E690K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	690					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCTTCAATTTCATCTTCTACA	0.303000													53	59					0	0	0.870114	0	0
C17orf74	201243	broad.mit.edu	37	17	7330205	7330205	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:7330205C>A	ENST00000333870.3	+	3	969	c.895C>A	c.(895-897)Cct>Act	p.P299T	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	299						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GGGGCACAGCCCTTACCCCTC	0.687000													13	62					1.52009e-12	1.59383e-12	0.479597	1	0
ADCYAP1	116	broad.mit.edu	37	18	909481	909481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:909481G>C	ENST00000579794.1	+	4	654	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	ADCYAP1_ENST00000450565.3_Missense_Mutation_p.E126Q	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	126					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	p.E126K(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGACGACGCGGAGCCGCTCTC	0.667000													21	54					0	0	0.639603	0	0
PSMD2	5708	broad.mit.edu	37	3	184026289	184026289	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:184026289G>A	ENST00000310118.4	+	20	3036	c.2478G>A	c.(2476-2478)caG>caA	p.Q826Q	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.Q696Q|PSMD2_ENST00000435761.1_Silent_p.Q667Q	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	826					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGCCATGCAGCCCCGAATGC	0.537000											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	157	264					0	0	0.870114	0	0
MED27	9442	broad.mit.edu	37	9	134952852	134952852	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:134952852G>C	ENST00000292035.5	-	2	388	c.325C>G	c.(325-327)Caa>Gaa	p.Q109E	RP11-32B11.2_ENST00000444872.2_RNA|MED27_ENST00000372184.3_Missense_Mutation_p.Q109E|MED27_ENST00000357028.2_Missense_Mutation_p.Q71E|MED27_ENST00000474263.1_5'UTR	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	109					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TTATATGCTTGAAGGAGTTGA	0.413000													10	286					0	0	0.387290	0	0
SUV420H2	84787	broad.mit.edu	37	19	55853367	55853367	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55853367C>T	ENST00000255613.3	+	2	311	c.63C>T	c.(61-63)ctC>ctT	p.L21L	AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'UTR	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCACCAGCCTCGTCCTGGACC	0.662000													43	108					0	0	0.870114	0	0
DHRS12	79758	broad.mit.edu	37	13	52348132	52348132	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:52348132C>T	ENST00000218981.1	-	6	513	c.402G>A	c.(400-402)ctG>ctA	p.L134L	DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000280056.2_Silent_p.L134L|DHRS12_ENST00000444610.2_Silent_p.L183L	NM_024705.2	NP_078981.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	183							binding|oxidoreductase activity			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CATTGGTGTTCAGTTTCTGAA	0.443000													33	100					0	0	0.779181	0	0
HEATR2	54919	broad.mit.edu	37	7	794332	794332	+	Silent	SNP	G	G	A	rs151119269		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:794332G>A	ENST00000297440.6	+	5	1151	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V	HEATR2_ENST00000313147.5_Silent_p.V377V	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	377							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GGACCCGAGTGAAGTCGGCAC	0.672000													68	174					0	0	0.870114	0	0
DNAL1	83544	broad.mit.edu	37	14	74125577	74125577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:74125577G>T	ENST00000553645.1	+	3	111	c.70G>T	c.(70-72)Gaa>Taa	p.E24*	DNAL1_ENST00000554871.1_5'UTR|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000540526.1_5'UTR	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	24										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		GAGGCCATCTGAAGCCAAAGA	0.403000													269	171					3.09578e-119	3.37224e-119	0.870114	1	0
OR11H4	390442	broad.mit.edu	37	14	20711066	20711066	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:20711066C>T	ENST00000315409.2	+	1	169	c.116C>T	c.(115-117)tCa>tTa	p.S39L		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TTCCTCTTCTCATTGTTTTTG	0.448000													29	177					0	0	0.693898	0	0
GC	2638	broad.mit.edu	37	4	72634073	72634073	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:72634073G>C	ENST00000273951.8	-	3	549	c.206C>G	c.(205-207)tCc>tGc	p.S69C	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.S88C|GC_ENST00000513476.1_Missense_Mutation_p.S69C	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	69	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTCGGTCAAGGAGACAACTTC	0.522000													15	41					0	0	0.457914	0	0
PCLO	27445	broad.mit.edu	37	7	82474791	82474791	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:82474791C>T	ENST00000423517.2	-	13	14179	c.13842G>A	c.(13840-13842)gcG>gcA	p.A4614A	PCLO_ENST00000333891.8_Silent_p.A4614A|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4502	C2 1.				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						CTGGGGATTTCGCCTTATCCA	0.418000													6	19					0	0	0.307466	0	0
ZNF99	7652	broad.mit.edu	37	19	22941540	22941540	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:22941540G>C	ENST00000397104.3	-	5	897	c.898C>G	c.(898-900)Cat>Gat	p.H300D	ZNF99_ENST00000596209.1_Missense_Mutation_p.H391D					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTCCAGTATGAATTATCTCA	0.353000													4	149					0	0	0.150653	0	0
MACF1	23499	broad.mit.edu	37	1	39833972	39833972	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:39833972G>C	ENST00000564288.1	+	50	13701	c.12924G>C	c.(12922-12924)aaG>aaC	p.K4308N	MACF1_ENST00000372915.3_Missense_Mutation_p.K4313N|MACF1_ENST00000317713.7_Missense_Mutation_p.K2246N|MACF1_ENST00000539005.1_Missense_Mutation_p.K2246N|MACF1_ENST00000567887.1_Missense_Mutation_p.K4345N|MACF1_ENST00000361689.2_Missense_Mutation_p.K2246N|MACF1_ENST00000289893.4_Missense_Mutation_p.K2748N|MACF1_ENST00000545844.1_Missense_Mutation_p.K2246N|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4313					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCTACAGAAGACAGTTAAAG	0.423000													30	116					0	0	0.750413	0	0
KRI1	65095	broad.mit.edu	37	19	10675660	10675660	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10675660C>T	ENST00000312962.6	-	3	256	c.237G>A	c.(235-237)ttG>ttA	p.L79L	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.L75L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	79										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCTTCTTCTTCAACAAGGAGA	0.488000											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	139					0	0	0.870114	0	0
BBX	56987	broad.mit.edu	37	3	107520004	107520004	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:107520004G>C	ENST00000415149.2	+	16	2851	c.2524G>C	c.(2524-2526)Gac>Cac	p.D842H	BBX_ENST00000402543.1_Missense_Mutation_p.D822H|BBX_ENST00000406780.1_Missense_Mutation_p.D842H|BBX_ENST00000325805.8_Missense_Mutation_p.D872H|BBX_ENST00000416476.2_Missense_Mutation_p.M535I	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGACTGCAATGACAAATGCTC	0.507000													60	83					0	0	0.870114	0	0
MYOCD	93649	broad.mit.edu	37	17	12666707	12666707	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:12666707G>A	ENST00000425538.1	+	14	2907	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.E855K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	855					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	p.E903K(1)|p.E855K(1)		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)		CAATGCACATGAGATCTTGCC	0.498000													23	66					0	0	0.639603	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													7	25					0	0	0.248553	0	0
PREPL	9581	broad.mit.edu	37	2	44549940	44549940	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:44549940C>G	ENST00000541738.1	-	12	2069	c.1683G>C	c.(1681-1683)ctG>ctC	p.L561L	PREPL_ENST00000260648.6_Silent_p.L650L|PREPL_ENST00000378520.3_Silent_p.L584L|PREPL_ENST00000378511.3_Silent_p.L588L|PREPL_ENST00000410081.1_Silent_p.L650L|PREPL_ENST00000409936.1_Silent_p.L650L|PREPL_ENST00000409957.1_Silent_p.L561L|PREPL_ENST00000409411.1_Silent_p.L561L|PREPL_ENST00000409272.1_Silent_p.L650L	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	650					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAATTCCTTTCAGAGGTACCC	0.423000													80	189					0	0	0.870114	0	0
DISC1	27185	broad.mit.edu	37	1	231830436	231830436	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:231830436G>T	ENST00000439617.2	+	2	985	c.932G>T	c.(931-933)gGc>gTc	p.G311V	DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.G311V|DISC1_ENST00000317586.4_Missense_Mutation_p.G311V|DISC1_ENST00000602281.1_Missense_Mutation_p.G311V|DISC1_ENST00000535983.1_Missense_Mutation_p.G311V|DISC1_ENST00000366633.3_Missense_Mutation_p.G311V|DISC1_ENST00000602873.1_Intron|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.G311V|DISC1_ENST00000539444.1_Missense_Mutation_p.G311V	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	311	Interaction with TRAF3IP1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TCACTGGCTGGCTGTGGTGGT	0.617000													16	87					6.49762e-13	6.82444e-13	0.539581	1	0
ZNF684	127396	broad.mit.edu	37	1	41012566	41012566	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:41012566G>A	ENST00000372699.3	+	5	822	c.571G>A	c.(571-573)Gac>Aac	p.D191N	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TGAATGCAATGACTGTGGAAA	0.393000													17	118					0	0	0.500413	0	0
HAP1	9001	broad.mit.edu	37	17	39881320	39881320	+	Missense_Mutation	SNP	C	C	T	rs149550090	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:39881320C>T	ENST00000393939.2	-	10	1427	c.1418G>A	c.(1417-1419)cGg>cAg	p.R473Q	HAP1_ENST00000347901.4_Missense_Mutation_p.R498Q|HAP1_ENST00000341193.5_Missense_Mutation_p.R481Q|HAP1_ENST00000310778.5_Missense_Mutation_p.R550Q|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	526	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATCTTCCCCCCGCATGATATC	0.607000													147	409					0	0	0.870114	0	0
ADCK1	57143	broad.mit.edu	37	14	78374175	78374175	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:78374175G>A	ENST00000238561.5	+	7	870	c.771G>A	c.(769-771)acG>acA	p.T257T	ADCK1_ENST00000341211.5_Silent_p.T189T	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	264	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity	p.T257T(1)|p.T189T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACCTGTCCACGGAGCGGGTCC	0.567000													31	26					0	0	0.796494	0	0
FAT4	79633	broad.mit.edu	37	4	126329825	126329825	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:126329825C>T	ENST00000394329.3	+	4	5809	c.5796C>T	c.(5794-5796)ttC>ttT	p.F1932F	FAT4_ENST00000335110.5_Silent_p.F230F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1932	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGTTTATTTCAATATTCTAG	0.348000													50	149					0	0	0.870114	0	0
ALAS2	212	broad.mit.edu	37	X	55039985	55039985	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:55039985C>G	ENST00000330807.5	-	10	1671	c.1534G>C	c.(1534-1536)Ggt>Cgt	p.G512R	ALAS2_ENST00000396198.3_Missense_Mutation_p.G499R|ALAS2_ENST00000335854.4_Missense_Mutation_p.G475R|ALAS2_ENST00000498636.1_Intron	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	512					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	AGCTCTTCACCCCGGGGGACA	0.572000													17	44					0	0	0.539581	0	0
FCGBP	8857	broad.mit.edu	37	19	40430302	40430302	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:40430302A>G	ENST00000221347.6	-	3	1648	c.1641T>C	c.(1639-1641)gtT>gtC	p.V547V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	547	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACGAAGCCAACTTCACCGC	0.647000													12	31					0	0	0.457914	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220824	118220824	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:118220824C>T	ENST00000402510.2	-	11	4368	c.4369G>A	c.(4369-4371)Gat>Aat	p.D1457N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1457										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTATTACCATCACCACTCTCA	0.453000													31	32					0	0	0.717897	0	0
CMYA5	202333	broad.mit.edu	37	5	79034791	79034791	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:79034791C>T	ENST00000446378.2	+	2	10234	c.10203C>T	c.(10201-10203)atC>atT	p.I3401I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3401						perinuclear region of cytoplasm		p.I3401I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCTAAAATCCTGGTCCCAC	0.453000													30	101					0	0	0.729181	0	0
CCPG1	9236	broad.mit.edu	37	15	55653003	55653003	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:55653003G>A	ENST00000310958.6	-	8	1266	c.968C>T	c.(967-969)tCa>tTa	p.S323L	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.S323L|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.S323L	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	323					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCCTGTAATGAGGATAAGGC	0.343000													34	125					0	0	0.779181	0	0
ADH5	128	broad.mit.edu	37	4	100006310	100006310	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:100006310C>T	ENST00000296412.8	-	2	120	c.70G>A	c.(70-72)Gag>Aag	p.E24K	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	24					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	ACCTCTATCTCCTCTATGGAG	0.453000													10	6					0	0	0.411799	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138719360	138719360	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:138719360G>A	ENST00000389532.4	-	8	1180	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	CAMSAP1_ENST00000409386.3_Silent_p.F383F|CAMSAP1_ENST00000312405.6_Silent_p.F94F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	372						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGCTGCCTAGGAAACTGCGTT	0.597000													11	37					0	0	0.387290	0	0
CAPSL	133690	broad.mit.edu	37	5	35910094	35910094	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:35910094G>A	ENST00000397367.2	-	4	525	c.399C>T	c.(397-399)atC>atT	p.I133I	CAPSL_ENST00000397366.1_Silent_p.I133I|CAPSL_ENST00000514524.1_Silent_p.I133I	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	133	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GAAGGTCTTCGATTGTTATAA	0.383000													62	211					0	0	0.870114	0	0
PACSIN2	11252	broad.mit.edu	37	22	43287098	43287098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:43287098G>T	ENST00000263246.3	-	4	509	c.308C>A	c.(307-309)tCa>tAa	p.S103*	PACSIN2_ENST00000407585.1_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000337959.4_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000403744.3_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000402229.1_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000496919.1_5'UTR	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	103					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GTTCATCAGTGAGGCCTTCAC	0.582000													20	83					1.64113e-05	1.68771e-05	0.592651	1	0
C19orf40	91442	broad.mit.edu	37	19	33467558	33467558	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:33467558G>T	ENST00000588258.1	+	5	728	c.618G>T	c.(616-618)caG>caT	p.Q206H	C19orf40_ENST00000589646.1_Missense_Mutation_p.Q111H|C19orf40_ENST00000590281.1_Missense_Mutation_p.Q206H|C19orf40_ENST00000590179.1_Missense_Mutation_p.Q111H	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	206	RuvA domain 2-like.				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGGCACAGCAGATCCATGCCT	0.542000								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	135					6.1207e-33	6.61465e-33	0.864702	1	0
CCT6B	10693	broad.mit.edu	37	17	33266221	33266221	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:33266221G>C	ENST00000314144.5	-	10	1309	c.1194C>G	c.(1192-1194)atC>atG	p.I398M	CCT6B_ENST00000436961.3_Missense_Mutation_p.I353M|CCT6B_ENST00000421975.3_Missense_Mutation_p.I361M	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	398					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TGGCATTTTTGATAGCACGAA	0.363000													7	281					0	0	0.248553	0	0
GRM1	2911	broad.mit.edu	37	6	146673564	146673564	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:146673564C>T	ENST00000392299.2	+	5	1835	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	GRM1_ENST00000361719.2_Silent_p.I455I|GRM1_ENST00000282753.1_Silent_p.I455I|GRM1_ENST00000492807.2_Silent_p.I455I|GRM1_ENST00000507907.1_Silent_p.I455I|GRM1_ENST00000355289.4_Silent_p.I455I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	455					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACTTCCTCATCAAGTCCTCAT	0.522000													70	283					0	0	0.870114	0	0
NOM1	64434	broad.mit.edu	37	7	156746954	156746954	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:156746954C>T	ENST00000275820.3	+	3	1285	c.1270C>T	c.(1270-1272)Ctc>Ttc	p.L424F	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	424	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGAGCATGTTCTCTTAGTCAG	0.502000													13	61					0	0	0.500413	0	0
UNC79	57578	broad.mit.edu	37	14	94084637	94084637	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:94084637G>A	ENST00000553484.1	+	30	4544	c.4390G>A	c.(4390-4392)Gcc>Acc	p.A1464T	UNC79_ENST00000393151.2_Missense_Mutation_p.A1442T|UNC79_ENST00000555664.1_Missense_Mutation_p.A1442T|UNC79_ENST00000256339.4_Missense_Mutation_p.A1265T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1442						integral to membrane		p.A1464P(1)|p.A1265P(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAAGCCCCATGCCACGGCAGG	0.423000													71	46					0	0	0.870114	0	0
HPSE	10855	broad.mit.edu	37	4	84234362	84234362	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:84234362C>G	ENST00000405413.2	-	5	714	c.578G>C	c.(577-579)aGa>aCa	p.R193T	HPSE_ENST00000512196.1_Missense_Mutation_p.R193T|HPSE_ENST00000513463.1_Intron|HPSE_ENST00000311412.5_Missense_Mutation_p.R193T	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	193					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	ATCTGCTGTTCTTAATAACGC	0.423000													32	58					0	0	0.788014	0	0
CACNA2D1	781	broad.mit.edu	37	7	81603800	81603800	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:81603800A>C	ENST00000356860.3	-	25	2362	c.2024T>G	c.(2023-2025)aTt>aGt	p.I675S	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.I687S	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	687						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTTTCTATCAATAAACTCGTT	0.284000													3	38					0	0	0.115264	0	0
ABCG8	64241	broad.mit.edu	37	2	44079754	44079754	+	Missense_Mutation	SNP	C	C	A	rs55702734		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:44079754C>A	ENST00000272286.2	+	6	801	c.711C>A	c.(709-711)gaC>gaA	p.D237E		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	237	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTATTCTCGACGAACCCACCT	0.612000													63	133					1.84395e-34	1.99626e-34	0.870114	1	0
CPT1A	1374	broad.mit.edu	37	11	68575046	68575046	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:68575046C>G	ENST00000265641.5	-	4	496	c.342G>C	c.(340-342)ctG>ctC	p.L114L	CPT1A_ENST00000376618.2_Silent_p.L114L|CPT1A_ENST00000540367.1_Silent_p.L114L|CPT1A_ENST00000539743.1_Silent_p.L114L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	114					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGGCCACCCACAGGCCGGTGC	0.607000													14	56					0	0	0.457914	0	0
PIGO	84720	broad.mit.edu	37	9	35092440	35092440	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:35092440G>C	ENST00000378617.3	-	7	1838	c.1444C>G	c.(1444-1446)Cta>Gta	p.L482V	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.L482V	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	482					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTCAGGAGTAGAGGGCAGAAT	0.582000													3	118					0	0	0.150653	0	0
INTU	27152	broad.mit.edu	37	4	128626859	128626859	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:128626859C>G	ENST00000335251.5	+	11	1783	c.1680C>G	c.(1678-1680)atC>atG	p.I560M	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	560										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GTCAGTTGATCATATGGAGAG	0.443000													29	319					0	0	0.729181	0	0
NLRP7	199713	broad.mit.edu	37	19	55450851	55450851	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55450851G>A	ENST00000446217.1	-	6	1822	c.1420C>T	c.(1420-1422)Cgt>Tgt	p.R474C	NLRP7_ENST00000592784.1_Missense_Mutation_p.R446C|NLRP7_ENST00000590030.1_Missense_Mutation_p.R446C|NLRP7_ENST00000448121.2_Missense_Mutation_p.R446C|NLRP7_ENST00000588756.1_Missense_Mutation_p.R446C|NLRP7_ENST00000340844.2_Missense_Mutation_p.R446C|NLRP7_ENST00000328092.5_Missense_Mutation_p.R446C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	446	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGAACAGACGGAGGTCGGAC	0.632000													21	70					0	0	0.654019	0	0
POU3F2	5454	broad.mit.edu	37	6	99282855	99282855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:99282855G>T	ENST00000328345.5	+	1	276	c.106G>T	c.(106-108)Gaa>Taa	p.E36*		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	36					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	p.E36Q(1)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GGGCTACCGCGAAGCGCAGAG	0.711000													7	24					4.93089e-13	5.18333e-13	0.457914	1	0
THSD4	79875	broad.mit.edu	37	15	71535271	71535271	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:71535271G>C	ENST00000355327.3	+	5	882	c.748G>C	c.(748-750)Gat>Cat	p.D250H	THSD4_ENST00000261862.6_Missense_Mutation_p.D250H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	250	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTGACCCATGATCAAGGCTA	0.582000													27	127					0	0	0.681144	0	0
NPM2	10361	broad.mit.edu	37	8	21891774	21891774	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:21891774G>A	ENST00000397940.1	+	6	1534	c.519G>A	c.(517-519)gcG>gcA	p.A173A	NPM2_ENST00000289820.6_Silent_p.A173A|NPM2_ENST00000521157.1_Silent_p.A173A|NPM2_ENST00000518119.1_Silent_p.A173A|NPM2_ENST00000381530.5_Intron			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	173					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AGAAGCAGGCGAGCGTGGCTA	0.567000													5	66					0	0	0.248553	0	0
ACVR1C	130399	broad.mit.edu	37	2	158399269	158399269	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:158399269G>C	ENST00000243349.7	-	6	1409	c.1049C>G	c.(1048-1050)tCa>tGa	p.S350*	ACVR1C_ENST00000335450.7_Nonsense_Mutation_p.S270*|ACVR1C_ENST00000348328.5_Nonsense_Mutation_p.S193*|ACVR1C_ENST00000409680.3_Nonsense_Mutation_p.S300*	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	350	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GTTCAGTATTGAATCATGCTT	0.418000													72	150					0	0	0.870114	0	0
HTR3C	170572	broad.mit.edu	37	3	183777329	183777329	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183777329G>A	ENST00000318351.1	+	7	860	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	276						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGCAGAGAGCGAGAATCGTGC	0.547000													55	317					0	0	0.870114	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447838	24447838	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:24447838G>A	ENST00000270800.1	-	7	1220	c.1182C>T	c.(1180-1182)gcC>gcT	p.A394A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	394						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TGTCCGGAGTGGCTTGAGGGG	0.572000													45	69					0	0	0.853193	0	0
SUPT6H	6830	broad.mit.edu	37	17	27001330	27001330	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:27001330G>T	ENST00000314616.6	+	3	422	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D47Y	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	47	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAACCTAGATGATCAGGATGA	0.468000													17	53					1.37285e-15	1.45056e-15	0.500413	1	0
CALB2	794	broad.mit.edu	37	16	71418697	71418697	+	Silent	SNP	G	G	A	rs143688092		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:71418697G>A	ENST00000302628.4	+	9	662	c.585G>A	c.(583-585)ctG>ctA	p.L195L	CALB2_ENST00000349553.5_Intron	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	195	EF-hand 5.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCATGAAGCTGACCTCAGAGG	0.502000													52	132					0	0	0.870114	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319636	21319636	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:21319636G>C	ENST00000583088.1	+	3	1877	c.982G>C	c.(982-984)Gag>Cag	p.E328Q	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E328Q	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TCACCGCTTTGAGCCCGTGCT	0.592000										Prostate(3;0.18)			23	188					0	0	0.624587	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062412	76062412	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:76062412G>A	ENST00000260045.3	-	5	1887	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	594					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GCTGTTCTGAGAATATATCTT	0.418000													61	143					0	0	0.870114	0	0
GNB3	2784	broad.mit.edu	37	12	6952355	6952355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:6952355C>A	ENST00000229264.3	+	6	626	c.221C>A	c.(220-222)tCg>tAg	p.S74*	GNB3_ENST00000435982.2_Nonsense_Mutation_p.S74*	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	74					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GTAAGTGCCTCGCAAGATGGG	0.612000													45	145					2.38262e-10	2.48551e-10	0.853193	1	0
ABCF2	10061	broad.mit.edu	37	7	150916225	150916225	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:150916225C>T	ENST00000287844.2	-	8	1051	c.942G>A	c.(940-942)gtG>gtA	p.V314V	ABCF2_ENST00000222388.2_Silent_p.V314V|ABCF2_ENST00000473874.1_5'UTR	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	314	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCGCGTCTTCACGTACTGAT	0.502000													71	201					0	0	0.870114	0	0
USP19	10869	broad.mit.edu	37	3	49149116	49149116	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49149116G>T	ENST00000453664.1	-	21	3316	c.2998C>A	c.(2998-3000)Cag>Aag	p.Q1000K	USP19_ENST00000417901.1_Missense_Mutation_p.Q1012K|USP19_ENST00000398892.3_Missense_Mutation_p.Q949K|USP19_ENST00000398896.1_Missense_Mutation_p.Q717K|USP19_ENST00000398898.2_Missense_Mutation_p.Q949K|USP19_ENST00000398888.2_Missense_Mutation_p.Q909K|USP19_ENST00000434032.2_Missense_Mutation_p.Q1010K	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	909					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCAGGTGGCTGAATGGGGTCT	0.672000													55	52					6.3091e-27	6.75897e-27	0.870114	1	0
RNF216	54476	broad.mit.edu	37	7	5662592	5662592	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:5662592G>C	ENST00000425013.2	-	17	2724	c.2500C>G	c.(2500-2502)Ctg>Gtg	p.L834V	RNF216_ENST00000389902.3_Missense_Mutation_p.L891V|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	834	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ACGTTGGGCAGAGGGGGCACG	0.647000													69	186					0	0	0.870114	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28297298	28297298	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:28297298C>T	ENST00000414429.1	-	6	1066	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E55K|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E55K|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E55K					zinc finger and SCAN domain containing 31																		CTCAGAGCTTCTCGGGGACCA	0.522000													126	195					0	0	0.870114	0	0
PARP8	79668	broad.mit.edu	37	5	50073932	50073932	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:50073932T>G	ENST00000281631.5	+	8	706	c.548T>G	c.(547-549)aTt>aGt	p.I183S	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_De_novo_Start_InFrame|PARP8_ENST00000505554.1_Missense_Mutation_p.I162S|PARP8_ENST00000503750.2_Missense_Mutation_p.I183S|PARP8_ENST00000505697.2_Missense_Mutation_p.I183S|PARP8_ENST00000514067.2_Missense_Mutation_p.I183S	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	183						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GATGTAGATATTGATCTGCAT	0.279000													18	51					0	0	0.624587	0	0
C16orf71	146562	broad.mit.edu	37	16	4797506	4797506	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4797506C>G	ENST00000299320.5	+	9	1921	c.1443C>G	c.(1441-1443)ctC>ctG	p.L481L	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.L498L	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	481										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ACATGAAGCTCTGTGCCAAGG	0.677000													22	39					0	0	0.639603	0	0
HDHD2	84064	broad.mit.edu	37	18	44660911	44660911	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:44660911C>T	ENST00000300605.6	-	3	418	c.266G>A	c.(265-267)aGa>aAa	p.R89K	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	89							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						CAGCATGGGTCTGACTTGTTT	0.363000													44	76					0	0	0.870114	0	0
KIF21B	23046	broad.mit.edu	37	1	200960823	200960823	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:200960823G>A	ENST00000332129.2	-	17	2732	c.2416C>T	c.(2416-2418)Cgg>Tgg	p.R806W	KIF21B_ENST00000422435.2_Missense_Mutation_p.R806W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R806W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R806W	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	806					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						TCCTGCTGCCGCTTCTGGGAC	0.617000													22	38					0	0	0.729181	0	0
TMEM132B	114795	broad.mit.edu	37	12	126136994	126136994	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:126136994C>T	ENST00000299308.3	+	8	1915	c.1907C>T	c.(1906-1908)tCg>tTg	p.S636L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S148L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	636						integral to membrane		p.S636L(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGGTCCTCTCGCCGTTGTCT	0.567000													16	32					0	0	0.479597	0	0
CXorf22	170063	broad.mit.edu	37	X	35974208	35974208	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:35974208C>G	ENST00000297866.5	+	8	1371	c.1305C>G	c.(1303-1305)atC>atG	p.I435M		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	435										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTCAGTGCATCATAAAAAATC	0.378000													44	34					0	0	0.834066	0	0
PLCL2	23228	broad.mit.edu	37	3	17056235	17056235	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:17056235C>T	ENST00000418129.2	+	3	2937	c.2472C>T	c.(2470-2472)ctC>ctT	p.L824L	PLCL2_ENST00000432376.1_Silent_p.L824L|PLCL2_ENST00000396755.2_Silent_p.L824L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	950	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGTGTGGCCTCTCCTCTGTGG	0.488000													122	161					0	0	0.870114	0	0
HSF5	124535	broad.mit.edu	37	17	56540556	56540556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:56540556G>A	ENST00000323777.3	-	4	1238	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	377						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAACTATCTGAAAGACAGCC	0.443000													51	139					0	0	0.870114	0	0
PLG	5340	broad.mit.edu	37	6	161157959	161157959	+	Silent	SNP	G	G	A	rs146030266		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:161157959G>A	ENST00000308192.9	+	14	1785	c.1722G>A	c.(1720-1722)ccG>ccA	p.P574P		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	574					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAGTGGAGCCGAAGAAATGTC	0.517000													42	85					0	0	0.840704	0	0
CSNK1E	1454	broad.mit.edu	37	22	38696025	38696025	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:38696025A>T	ENST00000396832.1	-	6	871	c.611T>A	c.(610-612)aTg>aAg	p.M204K	CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000413574.2_Missense_Mutation_p.M204K|CSNK1E_ENST00000405675.3_Missense_Mutation_p.M204K|CSNK1E_ENST00000400206.2_Missense_Mutation_p.M204K|CSNK1E_ENST00000359867.3_Missense_Mutation_p.M204K|CSNK1E_ENST00000403904.1_Missense_Mutation_p.M204K	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	204	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GTTGAAGTACATGAGCACGTA	0.582000													29	89					0	0	0.729181	0	0
ANGEL1	23357	broad.mit.edu	37	14	77269772	77269772	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:77269772G>A	ENST00000251089.2	-	7	1672	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	ANGEL1_ENST00000557179.1_Silent_p.I85I	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	520										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTGACAAGCGATGCTGCAGA	0.473000													83	61					0	0	0.870114	0	0
FARSB	10056	broad.mit.edu	37	2	223489148	223489148	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:223489148G>A	ENST00000281828.6	-	12	1276	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	FARSB_ENST00000536361.1_Missense_Mutation_p.S239L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	338	B5.				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TATGACTTCTGATTTTAAATA	0.353000													19	84					0	0	0.557998	0	0
C9orf47	286223	broad.mit.edu	37	9	91606129	91606129	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:91606129G>A	ENST00000334490.5	+	1	287	c.219G>A	c.(217-219)ccG>ccA	p.P73P	C9orf47_ENST00000375851.2_Intron|C9orf47_ENST00000375850.3_Intron			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	73						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						AACAGGGGCCGAAGGGCGAGC	0.706000													7	7					0	0	0.248553	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251184	25251184	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:25251184C>T	ENST00000328086.7	-	7	3660	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	953					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTGGGTTCTCAGGGCAATAC	0.423000													50	159					0	0	0.870114	0	0
PSG8	440533	broad.mit.edu	37	19	43268174	43268174	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:43268174C>T	ENST00000404209.4	-	2	420	c.324G>A	c.(322-324)ctG>ctA	p.L108L	PSG8_ENST00000306511.4_Silent_p.L108L|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Silent_p.L108L	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	108	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CATTCTGGATCAGCAGGGATG	0.418000													179	481					0	0	0.870114	0	0
PLXNB2	23654	broad.mit.edu	37	22	50718104	50718104	+	Silent	SNP	G	G	C	rs149176335	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:50718104G>C	ENST00000449103.1	-	27	4484	c.4344C>G	c.(4342-4344)ctC>ctG	p.L1448L	PLXNB2_ENST00000359337.4_Silent_p.L1448L			O15031	PLXB2_HUMAN	plexin B2	1448					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTGTCGTTGAGAGTGTACT	0.617000													4	276					0	0	0.150653	0	0
BCL2L14	79370	broad.mit.edu	37	12	12291889	12291889	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:12291889G>C	ENST00000396369.1	+	6	1026	c.831G>C	c.(829-831)taG>taC	p.*277Y	LRP6_ENST00000543091.1_Intron|LRP6_ENST00000261349.4_Intron			Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	0					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		AACACAATTAGAAAAAATGAC	0.453000													11	17					0	0	0.361761	0	0
AMDHD1	144193	broad.mit.edu	37	12	96348697	96348697	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:96348697G>A	ENST00000266736.2	+	3	359	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	85					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AGGTTTGGTGGATGCACACAC	0.393000													28	78					0	0	0.717897	0	0
DCAF6	55827	broad.mit.edu	37	1	168014243	168014243	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:168014243C>G	ENST00000367840.3	+	16	2130	c.2036C>G	c.(2035-2037)tCt>tGt	p.S679C	DCAF6_ENST00000367843.3_Missense_Mutation_p.S622C|DCAF6_ENST00000312263.6_Missense_Mutation_p.S602C|DCAF6_ENST00000432587.2_Missense_Mutation_p.S648C	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	603	IQ.				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCTGCTTCATCTGAAAAAGCC	0.443000													24	168					0	0	0.624587	0	0
ABCA13	154664	broad.mit.edu	37	7	48315502	48315502	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:48315502C>G	ENST00000435803.1	+	17	6263	c.6239C>G	c.(6238-6240)tCt>tGt	p.S2080C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2080					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACCTGCTTTCTGAAATGAAC	0.363000													15	52					0	0	0.479597	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564298	176564298	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:176564298C>T	ENST00000367662.3	+	3	2722	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R520W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	520	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R520G(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGCCCCTTCGGGGAGAGAA	0.537000													32	50					0	0	0.760397	0	0
ZNF282	8427	broad.mit.edu	37	7	148895519	148895519	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:148895519G>A	ENST00000262085.3	+	2	365	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	ZNF282_ENST00000479907.1_Missense_Mutation_p.R87Q	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	87					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CGCATGATGCGAGAGCCCCAG	0.602000													24	84					0	0	0.639603	0	0
COL11A2	1302	broad.mit.edu	37	6	33135224	33135224	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33135224C>G	ENST00000341947.2	-	56	4328	c.4101G>C	c.(4099-4101)ctG>ctC	p.L1367L	COL11A2_ENST00000395197.1_Silent_p.L1307L|COL11A2_ENST00000374708.4_Silent_p.L1281L|COL11A2_ENST00000357486.1_Silent_p.L1346L|COL11A2_ENST00000374712.1_Silent_p.L1286L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Silent_p.L1320L|COL11A2_ENST00000374714.1_Silent_p.L1341L|COL11A2_ENST00000361917.1_Silent_p.L1260L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1367	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGAGCCCCCTCAGACCATCAG	0.667000													30	32					0	0	0.740014	0	0
NEB	4703	broad.mit.edu	37	2	152548584	152548584	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:152548584G>C	ENST00000427231.2	-	22	2297	c.2095C>G	c.(2095-2097)Caa>Gaa	p.Q699E	NEB_ENST00000397345.3_Missense_Mutation_p.Q699E|NEB_ENST00000604864.1_Missense_Mutation_p.Q699E|NEB_ENST00000172853.10_Missense_Mutation_p.Q699E|NEB_ENST00000409198.1_Missense_Mutation_p.Q699E|NEB_ENST00000603639.1_Missense_Mutation_p.Q699E	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	699					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACTGTTTTGAGCTGCAACT	0.373000													49	170					0	0	0.870114	0	0
KCNB1	3745	broad.mit.edu	37	20	47990509	47990509	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:47990509C>T	ENST00000371741.4	-	2	1754	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	530					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TACATGTCTTCCAACTGCTGA	0.468000													98	295					0	0	0.870114	0	0
ESYT3	83850	broad.mit.edu	37	3	138178802	138178802	+	Missense_Mutation	SNP	C	C	T	rs62282904		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:138178802C>T	ENST00000389567.4	+	6	850	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	ESYT3_ENST00000289135.4_Missense_Mutation_p.R222W	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	222						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGGCACCCTGCGGGTCATCCT	0.632000													53	148					0	0	0.870114	0	0
ZNF836	162962	broad.mit.edu	37	19	52659726	52659726	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52659726G>A	ENST00000322146.8	-	5	1731	c.1210C>T	c.(1210-1212)Cat>Tat	p.H404Y	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.H404Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACTGTCTGATGAGTTGCCAGG	0.403000													5	105					0	0	0.217242	0	0
UBXN1	51035	broad.mit.edu	37	11	62444320	62444320	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:62444320G>C	ENST00000294119.2	-	8	940	c.809C>G	c.(808-810)tCa>tGa	p.S270*	UBXN1_ENST00000301935.5_Nonsense_Mutation_p.S270*|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Nonsense_Mutation_p.S266*	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	270	Interaction with BRCA1.|UBX.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GTCAGCTTCTGAGAAGGCCCG	0.592000													62	187					0	0	0.870114	0	0
GLG1	2734	broad.mit.edu	37	16	74516954	74516954	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:74516954A>G	ENST00000422840.2	-	10	1639	c.1640T>C	c.(1639-1641)tTa>tCa	p.L547S	GLG1_ENST00000447066.2_Missense_Mutation_p.L536S|GLG1_ENST00000205061.5_Missense_Mutation_p.L547S	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	547						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CTGCAGCTCTAAGAGACGGTG	0.403000													35	96					0	0	0.819951	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69423576	69423576	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:69423576G>C	ENST00000357336.3	+	15	2153	c.1872G>C	c.(1870-1872)gtG>gtC	p.V624V		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	624										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GTGAAAGTGTGAAAACAGAAA	0.358000													25	72					0	0	0.693898	0	0
BCORL1	63035	broad.mit.edu	37	X	129147430	129147430	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:129147430C>T	ENST00000540052.1	+	3	726	c.682C>T	c.(682-684)Cct>Tct	p.P228S	BCORL1_ENST00000359304.2_Missense_Mutation_p.P228S|BCORL1_ENST00000218147.7_Missense_Mutation_p.P228S|BCORL1_ENST00000303743.5_Missense_Mutation_p.P228S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	228	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCTCTCCGTCCCTGCCCCAGT	0.622000													5	178					0	0	0.184627	0	0
CCDC53	51019	broad.mit.edu	37	12	102439861	102439861	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:102439861C>G	ENST00000240079.6	-	3	348	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	CCDC53_ENST00000545679.1_Missense_Mutation_p.E63Q|CCDC53_ENST00000539515.1_5'UTR	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	63						WASH complex	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						AGAGTTGTTTCAATTTGTTGG	0.284000													3	13					0	0	0.115264	0	0
SHB	6461	broad.mit.edu	37	9	37974647	37974647	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:37974647C>G	ENST00000377707.3	-	3	1591	c.1026G>C	c.(1024-1026)tgG>tgC	p.W342C	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	342	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGACCCGGTTCCACTCCCAAG	0.657000													34	71					0	0	0.847076	0	0
GPR161	23432	broad.mit.edu	37	1	168065809	168065809	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:168065809G>A	ENST00000367838.1	-	5	1349	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	GPR161_ENST00000539777.1_Missense_Mutation_p.R268W|GPR161_ENST00000271357.5_Missense_Mutation_p.R346W|GPR161_ENST00000367836.1_Missense_Mutation_p.R214W|GPR161_ENST00000537209.1_Missense_Mutation_p.R366W|GPR161_ENST00000546300.1_Missense_Mutation_p.R232W|GPR161_ENST00000361697.2_Missense_Mutation_p.R346W|GPR161_ENST00000367835.1_Missense_Mutation_p.R346W	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	346					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AATGGTTCCCGATAATACCGG	0.527000													44	66					0	0	0.840704	0	0
HOXC4	3221	broad.mit.edu	37	12	54448756	54448756	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:54448756G>A	ENST00000430889.2	+	2	608	c.562G>A	c.(562-564)Gag>Aag	p.E188K	HOXC4_ENST00000303406.4_Missense_Mutation_p.E188K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	188						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GAGAAGGATCGAGATCGCCCA	0.532000													19	41					0	0	0.539581	0	0
PIK3IP1	113791	broad.mit.edu	37	22	31685563	31685563	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:31685563C>A	ENST00000215912.5	-	4	613	c.430G>T	c.(430-432)Gca>Tca	p.A144S	PIK3IP1_ENST00000441972.1_Missense_Mutation_p.A144S|PIK3IP1_ENST00000487265.2_Missense_Mutation_p.A65S|PIK3IP1_ENST00000402249.3_Missense_Mutation_p.A144S	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	144						integral to membrane				large_intestine(2)|lung(1)|ovary(1)	4						TGCACAGCTGCCGCCTCACTC	0.617000													4	6					0.000602214	0.000615197	0.184627	1	0
XIRP2	129446	broad.mit.edu	37	2	168106418	168106418	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:168106418G>T	ENST00000409195.1	+	9	8605	c.8516G>T	c.(8515-8517)aGa>aTa	p.R2839I	XIRP2_ENST00000295237.9_Missense_Mutation_p.R2839I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2617I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2664					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						ATAACTGAAAGAAAACACGAA	0.383000													4	119					0.00909568	0.00921536	0.150653	1	0
CELA3A	10136	broad.mit.edu	37	1	22329569	22329569	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:22329569C>T	ENST00000290122.3	+	2	136	c.117C>T	c.(115-117)agC>agT	p.S39S	CELA3A_ENST00000374663.1_Silent_p.S39S	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCCTACAGCTGGCCCTGGC	0.597000													22	121					0	0	0.608945	0	0
ACAD10	80724	broad.mit.edu	37	12	112140045	112140045	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:112140045G>A	ENST00000455480.2	+	3	444	c.267G>A	c.(265-267)atG>atA	p.M89I	ACAD10_ENST00000549590.1_Missense_Mutation_p.M89I|ACAD10_ENST00000313698.4_Missense_Mutation_p.M89I|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	89							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCCCTGGATGAGATTTATGA	0.403000													70	162					0	0	0.870114	0	0
MIDN	90007	broad.mit.edu	37	19	1254429	1254429	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:1254429C>T	ENST00000300952.2	+	5	1163	c.648C>T	c.(646-648)atC>atT	p.I216I	MIDN_ENST00000591446.2_Silent_p.I216I	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	216						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)		CCTCGCCCATCACAGCCGGCT	0.711000													3	4					0	0	0.115264	0	0
STON1	11037	broad.mit.edu	37	2	48809196	48809196	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:48809196C>G	ENST00000309835.3	+	1	1434	c.1424C>G	c.(1423-1425)tCa>tGa	p.S475*	STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.S475*|STON1_ENST00000406226.1_Nonsense_Mutation_p.S475*|STON1_ENST00000404752.1_Nonsense_Mutation_p.S475*					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGAAGGACTCAGAAAAAAAG	0.368000													41	142					0	0	0.827153	0	0
TSC22D1	8848	broad.mit.edu	37	13	45008797	45008797	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:45008797G>T	ENST00000458659.2	-	3	3677	c.3187C>A	c.(3187-3189)Cag>Aag	p.Q1063K	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Missense_Mutation_p.Q134K	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1063					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GATGCTGGCTGGGCGGGGGGC	0.652000													6	33					0.00307968	0.0031305	0.278610	1	0
APBA1	320	broad.mit.edu	37	9	72132030	72132030	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:72132030C>T	ENST00000265381.4	-	2	319	c.97G>A	c.(97-99)Gag>Aag	p.E33K		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	33					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCTTCCACCTCGGGGTGCTCC	0.701000													7	3					0	0	0.248553	0	0
ZNF551	90233	broad.mit.edu	37	19	58199369	58199369	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:58199369C>G	ENST00000282296.5	+	3	1911	c.1726C>G	c.(1726-1728)Caa>Gaa	p.Q576E	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.Q560E	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAGCCTCATTCAACACCAGAG	0.468000													42	116					0	0	0.840704	0	0
KLHL12	59349	broad.mit.edu	37	1	202861736	202861736	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:202861736G>A	ENST00000367261.3	-	12	1850	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	KLHL12_ENST00000367259.1_3'UTR|KLHL12_ENST00000435533.3_Silent_p.I582I	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	544	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCAGCTGTCGATGATAGGGT	0.488000													12	105					0	0	0.387290	0	0
SRCAP	10847	broad.mit.edu	37	16	30712176	30712176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:30712176C>T	ENST00000262518.4	+	3	416	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.Q11*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.Q11*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	11					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)			TGCTCACCCTCAGCTCCCAGT	0.552000													23	90					0	0	0.667858	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650991	43650991	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:43650991G>C	ENST00000374466.3	+	2	729	c.394G>C	c.(394-396)Gaa>Caa	p.E132Q	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.E132Q	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	132					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGACAAAGCTGAAGTTAGCAT	0.413000													44	63					0	0	0.870114	0	0
HLA-B	3106	broad.mit.edu	37	6	31324214	31324214	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:31324214G>C	ENST00000412585.2	-	3	377	c.349C>G	c.(349-351)Cac>Gac	p.H117D		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TGGAGGGTGTGAGACCCTGGC	0.697000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				7	17					0	0	0.248553	0	0
ATP1A2	477	broad.mit.edu	37	1	160106385	160106385	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:160106385C>G	ENST00000361216.3	+	19	2678	c.2589C>G	c.(2587-2589)ttC>ttG	p.F863L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.F863L|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	863					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGTGGCTTCTTCACCTACT	0.602000													25	111					0	0	0.693898	0	0
DPF3	8110	broad.mit.edu	37	14	73137905	73137905	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:73137905G>A	ENST00000541685.1	-	9	1025	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	DPF3_ENST00000556509.1_Intron|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.S348F	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	169					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCCTCGACAGGAGCGAGGCTC	0.572000													51	31					0	0	0.870114	0	0
MED13	9969	broad.mit.edu	37	17	60088194	60088194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:60088194G>A	ENST00000397786.2	-	9	1760	c.1684C>T	c.(1684-1686)Caa>Taa	p.Q562*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	562					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTTGGCATTTGATAAAAATGT	0.438000													46	112					0	0	0.864702	0	0
BTNL8	79908	broad.mit.edu	37	5	180377003	180377003	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:180377003C>G	ENST00000340184.4	+	8	1168	c.962C>G	c.(961-963)tCt>tGt	p.S321C	BTNL8_ENST00000511704.1_Missense_Mutation_p.S205C|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.S196C|BTNL8_ENST00000533815.2_Missense_Mutation_p.S137C|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.S114C	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	321	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGCCTCACTCTGAGAAGAGA	0.517000													35	92					0	0	0.864702	0	0
MNDA	4332	broad.mit.edu	37	1	158812162	158812162	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:158812162A>G	ENST00000368141.4	+	2	480	c.219A>G	c.(217-219)ccA>ccG	p.P73P	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	73	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAGATATGCCATCACTTAAAA	0.373000													50	112					0	0	0.870114	0	0
ZNF607	84775	broad.mit.edu	37	19	38189234	38189234	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:38189234G>T	ENST00000355202.4	-	5	2393	c.1798C>A	c.(1798-1800)Cat>Aat	p.H600N	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.H599N	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGTGAAGCATGACTAAAAGTT	0.398000													23	78					5.45024e-15	5.75381e-15	0.654019	1	0
STEAP2-AS1	100874100	broad.mit.edu	37	7	89749178	89749178	+	RNA	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:89749178C>T	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA																							CTTTGGACTTCGGTAAGGAGA	0.572000													11	22					0	0	0.361761	0	0
CKAP5	9793	broad.mit.edu	37	11	46801864	46801864	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:46801864C>G	ENST00000529230.1	-	20	2359	c.2313G>C	c.(2311-2313)gtG>gtC	p.V771V	CKAP5_ENST00000354558.3_Silent_p.V771V|CKAP5_ENST00000312055.5_Silent_p.V771V|CKAP5_ENST00000415402.1_Silent_p.V771V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	771					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAGCAGTCCTCACAGCCTGCC	0.418000													12	42					0	0	0.387290	0	0
HVCN1	84329	broad.mit.edu	37	12	111099112	111099112	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:111099112C>T	ENST00000356742.5	-	3	916	c.163G>A	c.(163-165)Gag>Aag	p.E55K	HVCN1_ENST00000439744.2_Missense_Mutation_p.E35K|HVCN1_ENST00000548312.1_Missense_Mutation_p.E55K|HVCN1_ENST00000242607.8_Missense_Mutation_p.E55K			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	55	Poly-Glu.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GGTGGCTGctcctcctcctcc	0.607000													19	50					0	0	0.575678	0	0
TRIM5	85363	broad.mit.edu	37	11	5701231	5701231	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:5701231C>G	ENST00000305836.5	-	2	479	c.177G>C	c.(175-177)cgG>cgC	p.R59R	TRIM5_ENST00000396853.4_Silent_p.R59R|TRIM5_ENST00000380034.3_Silent_p.R59R|TRIM5_ENST00000380027.1_Silent_p.R59R|TRIM5_ENST00000396847.3_Silent_p.R59R|TRIM5_ENST00000396855.3_Silent_p.R59R			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	59					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GGTAACTGATCCGGCACACAG	0.547000													6	234					0	0	0.217242	0	0
C1orf168	199920	broad.mit.edu	37	1	57257831	57257831	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:57257831G>C	ENST00000343433.6	-	2	735	c.655C>G	c.(655-657)Caa>Gaa	p.Q219E	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	219										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTGATATGTTGAGAAATTACA	0.522000													50	279					0	0	0.870114	0	0
PARD3	56288	broad.mit.edu	37	10	34649066	34649066	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:34649066G>C	ENST00000374789.3	-	13	2154	c.1829C>G	c.(1828-1830)tCa>tGa	p.S610*	PARD3_ENST00000374768.1_Nonsense_Mutation_p.S48*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.S597*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.S610*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.S610*|PARD3_ENST00000544292.1_Nonsense_Mutation_p.S327*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.S597*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.S610*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.S553*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.S553*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.S553*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.S597*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.S610*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	610	PDZ 3.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTTCTCTTTTGACCGGTTACC	0.433000													37	107					0	0	0.819951	0	0
AP1M2	10053	broad.mit.edu	37	19	10689577	10689577	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10689577G>A	ENST00000590923.1	-	8	968	c.885C>T	c.(883-885)atC>atT	p.I295I	AP1M2_ENST00000250244.6_Silent_p.I293I			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	293	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CCTTGACCATGATCTCCACGC	0.547000													6	15					0	0	0.248553	0	0
KXD1	79036	broad.mit.edu	37	19	18679247	18679247	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:18679247G>A	ENST00000602094.1	+	5	1797	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	KXD1_ENST00000599319.1_Missense_Mutation_p.E113K|KXD1_ENST00000222307.4_Missense_Mutation_p.E113K|KXD1_ENST00000595073.1_Missense_Mutation_p.E113K|KXD1_ENST00000601630.1_Missense_Mutation_p.E132K|KXD1_ENST00000540691.1_Missense_Mutation_p.E113K|KXD1_ENST00000539106.1_Missense_Mutation_p.E113K			Q9BQD3	CS050_HUMAN	KxDL motif containing 1	113							protein binding										GGAAGAGGATGAAGACCCCAT	0.577000													106	424					0	0	0.870114	0	0
ITFG1	81533	broad.mit.edu	37	16	47488014	47488014	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:47488014G>A	ENST00000320640.6	-	3	565	c.337C>T	c.(337-339)Caa>Taa	p.Q113*	ITFG1_ENST00000544001.2_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	113						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ACATCCATTTGAGAATCTCCA	0.363000													44	179					0	0	0.870114	0	0
DDN	23109	broad.mit.edu	37	12	49391866	49391866	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:49391866C>T	ENST00000421952.2	-	2	814	c.793G>A	c.(793-795)Gac>Aac	p.D265N		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	265						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CGCCCTCCGTCTGTCCTGGCT	0.637000													32	97					0	0	0.847076	0	0
MUC17	140453	broad.mit.edu	37	7	100677779	100677779	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100677779G>A	ENST00000306151.4	+	3	3146	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1028	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCCACTGCTGAAGGTACCAG	0.517000													152	419					0	0	0.870114	0	0
SNX30	401548	broad.mit.edu	37	9	115567235	115567235	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:115567235G>A	ENST00000374232.3	+	2	500	c.336G>A	c.(334-336)agG>agA	p.R112R		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	112	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCACCTATAGGATCACCACCA	0.453000													4	234					0	0	0.150653	0	0
LRPPRC	10128	broad.mit.edu	37	2	44161341	44161341	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:44161341C>T	ENST00000260665.7	-	25	2781	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	908					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAATGATCTTCTTGGCCTCTT	0.338000													12	62					0	0	0.411799	0	0
TATDN2	9797	broad.mit.edu	37	3	10291085	10291085	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:10291085G>A	ENST00000287652.4	+	2	1252	c.201G>A	c.(199-201)cgG>cgA	p.R67R	RP11-438J1.1_ENST00000450534.1_Silent_p.R10R|TATDN2_ENST00000448281.2_Silent_p.R67R	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	67						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTTGCTCGCGGAGGTTATCCT	0.652000													61	70					0	0	0.870114	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069472	6069472	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:6069472C>T	ENST00000381095.3	-	2	663	c.36G>A	c.(34-36)ttG>ttA	p.L12L	NLGN4X_ENST00000381092.1_Silent_p.L12L|NLGN4X_ENST00000381093.2_Silent_p.L12L|NLGN4X_ENST00000538097.1_Silent_p.L12L|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Silent_p.L12L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	12					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGGTGAACAACAAAGGAAGCC	0.522000													19	26					0	0	0.575678	0	0
SKA3	221150	broad.mit.edu	37	13	21729931	21729931	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:21729931G>C	ENST00000314759.5	-	8	1263	c.1139C>G	c.(1138-1140)tCa>tGa	p.S380*	SKA3_ENST00000400018.3_Intron	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	380					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCTAGGTTTGAGTTGTATTT	0.333000													29	118					0	0	0.706142	0	0
MFSD8	256471	broad.mit.edu	37	4	128863250	128863250	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:128863250G>C	ENST00000296468.3	-	6	630	c.503C>G	c.(502-504)tCc>tGc	p.S168C	MFSD8_ENST00000541133.1_Missense_Mutation_p.S123C|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.S123C	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	168					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GTTTGCCATGGAACTTGTTCT	0.353000													35	189					0	0	0.847076	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142422	5142422	+	RNA	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:5142422C>T	ENST00000498233.1	-	0	976																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GATAACAGATCGCTACACAGC	0.463000													21	44					0	0	0.608945	0	0
PDXDC1	23042	broad.mit.edu	37	16	15100328	15100328	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:15100328C>T	ENST00000396410.4	+	6	564	c.467C>T	c.(466-468)tCt>tTt	p.S156F	PDXDC1_ENST00000447912.2_Missense_Mutation_p.S65F|PDXDC1_ENST00000569715.1_Missense_Mutation_p.S129F|PDXDC1_ENST00000563679.1_Missense_Mutation_p.S174F|PDXDC1_ENST00000325823.7_Missense_Mutation_p.S141F|PDXDC1_ENST00000535621.2_Missense_Mutation_p.S156F|PDXDC1_ENST00000455313.2_Missense_Mutation_p.S156F|PDXDC1_ENST00000450288.2_Missense_Mutation_p.S128F	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	156					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCCATTCATTCTCGATATGAA	0.398000													46	293					0	0	0.870114	0	0
ATP13A4	84239	broad.mit.edu	37	3	193220359	193220359	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:193220359C>T	ENST00000342695.4	-	3	626	c.304G>A	c.(304-306)Ggt>Agt	p.G102S	ATP13A4_ENST00000295548.3_Missense_Mutation_p.G102S|ATP13A4_ENST00000392443.3_Missense_Mutation_p.G102S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	102					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)		GGAGTGAGACCAAATGCGCTG	0.408000													139	88					0	0	0.870114	0	0
PDE6C	5146	broad.mit.edu	37	10	95372755	95372755	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:95372755C>G	ENST00000371447.3	+	1	411	c.273C>G	c.(271-273)ctC>ctG	p.L91L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	91	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CCCACCTGCTCCAGGCTGACC	0.657000													21	32					0	0	0.693898	0	0
COL1A2	1278	broad.mit.edu	37	7	94049587	94049587	+	Missense_Mutation	SNP	C	C	T	rs139199272		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:94049587C>T	ENST00000297268.6	+	35	2593	c.2122C>T	c.(2122-2124)Cgg>Tgg	p.R708W		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	708			Missing (in OI2A).|R -> Q (in Marfan syndrome).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	tgctggtcctCGGGGAAGCCC	0.448000										HNSCC(75;0.22)			45	126					0	0	0.859065	0	0
MYH9	4627	broad.mit.edu	37	22	36708220	36708220	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:36708220G>A	ENST00000216181.5	-	14	1832	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	534	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			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						TGGCTTTGGGGAACCAGCACT	0.632000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				36	111					0	0	0.788014	0	0
ZNF250	58500	broad.mit.edu	37	8	146108151	146108151	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:146108151C>T	ENST00000292579.7	-	6	548	c.432G>A	c.(430-432)gtG>gtA	p.V144V	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Silent_p.V139V	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TCCCCAGAATCACTGTTTGCT	0.398000													7	417					0	0	0.248553	0	0
PPP1R21	129285	broad.mit.edu	37	2	48698496	48698496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:48698496C>T	ENST00000294952.8	+	11	1235	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.Q360*|PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.Q360*	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	360										endometrium(2)|kidney(4)|lung(9)	15						TCTTCCCTATCAGTTAAAAAG	0.388000													32	113					0	0	0.729181	0	0
CCDC106	29903	broad.mit.edu	37	19	56162717	56162717	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56162717G>A	ENST00000586790.1	+	4	1286	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CCDC106_ENST00000591578.1_Missense_Mutation_p.E128K|CCDC106_ENST00000588740.1_Missense_Mutation_p.E128K|CCDC106_ENST00000591241.1_Missense_Mutation_p.E93K|CCDC106_ENST00000308964.3_Missense_Mutation_p.E128K			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	128						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GGCTGGGGGCGAGGCCTCGGA	0.667000													18	30					0	0	0.557998	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884942	12884942	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12884942C>G	ENST00000535591.1	-	4	1364	c.1169G>C	c.(1168-1170)aGa>aCa	p.R390T		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	390										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTGAGCAAATCTGCTCCAGCA	0.498000													106	306					0	0	0.870114	0	0
MYH2	4620	broad.mit.edu	37	17	10441071	10441071	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10441071C>G	ENST00000245503.5	-	15	1882	c.1498G>C	c.(1498-1500)Gag>Cag	p.E500Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E500Q|MYH2_ENST00000532183.1_Missense_Mutation_p.E500Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	500	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTCCTGCTCCAGCACGAAC	0.483000													82	196					0	0	0.870114	0	0
ERAP2	64167	broad.mit.edu	37	5	96219594	96219594	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:96219594G>A	ENST00000437043.3	+	3	1385	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	ERAP2_ENST00000510309.1_Missense_Mutation_p.R225Q|ERAP2_ENST00000379904.4_Missense_Mutation_p.R225Q|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	225					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ATCAAGATACGAAGAGAGAGC	0.418000													20	84					0	0	0.575678	0	0
ADCK3	56997	broad.mit.edu	37	1	227171832	227171832	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:227171832G>C	ENST00000366779.1	+	16	4065	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366775.1_Missense_Mutation_p.E277Q|ADCK3_ENST00000433743.2_Missense_Mutation_p.E106Q|ADCK3_ENST00000366778.1_Missense_Mutation_p.E380Q|ADCK3_ENST00000366776.1_Missense_Mutation_p.E357Q|ADCK3_ENST00000458507.2_Missense_Mutation_p.E153Q|ADCK3_ENST00000366777.3_Missense_Mutation_p.E432Q			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	432	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CTATGTGCCTGAGATTGTGGA	0.642000													4	41					0	0	0.150653	0	0
SENP5	205564	broad.mit.edu	37	3	196656542	196656542	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:196656542C>G	ENST00000323460.5	+	9	2394	c.2145C>G	c.(2143-2145)gtC>gtG	p.V715V	SENP5_ENST00000445299.2_Silent_p.V669V|SENP5_ENST00000419026.1_Silent_p.V205V	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	715	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)		ACTGTGGAGTCTTTGTGCTCC	0.393000													42	116					0	0	0.870114	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111102	7111102	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:7111102G>A	ENST00000306904.5	+	1	938	c.751G>A	c.(751-753)Gac>Aac	p.D251N		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	251	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTCCGGGACGACTGTCCCTT	0.642000													13	28					0	0	0.500413	0	0
APC	324	broad.mit.edu	37	5	112179224	112179224	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:112179224T>C	ENST00000457016.1	+	16	8313	c.7933T>C	c.(7933-7935)Tat>Cat	p.Y2645H	APC_ENST00000257430.4_Missense_Mutation_p.Y2645H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Y2645H			P25054	APC_HUMAN	adenomatous polyposis coli	2645	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GACTCTAATTTATCAAATGGC	0.388000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			92	165					0	0	0.870114	0	0
STYK1	55359	broad.mit.edu	37	12	10783759	10783759	+	Silent	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10783759T>C	ENST00000075503.3	-	5	856	c.336A>G	c.(334-336)caA>caG	p.Q112Q		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	112						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTTCAGAGAGTTGCTCCCGCG	0.527000										HNSCC(73;0.22)			31	96					0	0	0.779181	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52981631	52981631	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:52981631C>G	ENST00000371544.3	-	3	1076	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E272Q|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.E272Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	272					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGCCTCTGCTCAGGTGTCAAT	0.368000													40	159					0	0	0.827153	0	0
RPS3	6188	broad.mit.edu	37	11	75111786	75111786	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:75111786C>T	ENST00000531188.1	+	2	141	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	RPS3_ENST00000278572.6_Missense_Mutation_p.R27W|RPS3_ENST00000534440.1_Missense_Mutation_p.R27W|RPS3_ENST00000524851.1_Missense_Mutation_p.R27W|RPS3_ENST00000527446.1_Missense_Mutation_p.R27W|RPS3_ENST00000530164.1_Missense_Mutation_p.R27W|RPS3_ENST00000526608.1_Missense_Mutation_p.R27W|RPS3_ENST00000529285.1_3'UTR	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	27	KH type-2.				activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GTTTCTTACTCGGGAGCTGGC	0.438000													5	195					0	0	0.184627	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959018	10959018	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10959018G>T	ENST00000240615.2	-	1	874	c.562C>A	c.(562-564)Ctg>Atg	p.L188M		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	188					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATTGCAAACAGGTTAAAGAGA	0.333000													22	87					1.28384e-07	1.32692e-07	0.608945	1	0
LMNB2	84823	broad.mit.edu	37	19	2438470	2438470	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:2438470G>A	ENST00000325327.3	-	3	523	c.461C>T	c.(460-462)tCc>tTc	p.S154F	LMNB2_ENST00000582871.1_Missense_Mutation_p.S134F			Q03252	LMNB2_HUMAN	lamin B2	134	Coil 1B.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		GTGGAACAGGGACTCCAGGTC	0.662000													13	26					0	0	0.411799	0	0
TRIM24	8805	broad.mit.edu	37	7	138235861	138235861	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:138235861G>A	ENST00000343526.4	+	8	1412	c.1197G>A	c.(1195-1197)gtG>gtA	p.V399V	TRIM24_ENST00000415680.2_Silent_p.V399V|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	399					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CATCCCCAGTGACCAACAACA	0.403000													42	154					0	0	0.840704	0	0
YIPF5	81555	broad.mit.edu	37	5	143544999	143544999	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:143544999C>T	ENST00000274496.5	-	3	414	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	YIPF5_ENST00000448443.2_Missense_Mutation_p.E94K|YIPF5_ENST00000513112.1_Missense_Mutation_p.E40K	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	94	Interaction with Sec23.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATCTTACCTTCTAATAAAGGT	0.378000													18	105					0	0	0.539581	0	0
CENPE	1062	broad.mit.edu	37	4	104054926	104054926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:104054926G>A	ENST00000265148.3	-	41	6735	c.6646C>T	c.(6646-6648)Caa>Taa	p.Q2216*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.Q2095*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2216	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAATCTTGTTGAAGGTGCTGT	0.289000													13	32					0	0	0.411799	0	0
TNIP1	10318	broad.mit.edu	37	5	150415257	150415257	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:150415257G>A	ENST00000389378.2	-	14	1995	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	TNIP1_ENST00000518977.1_Silent_p.F469F|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000520931.1_Silent_p.F416F|TNIP1_ENST00000523200.1_Silent_p.F469F|TNIP1_ENST00000524280.1_Silent_p.F469F|TNIP1_ENST00000521591.1_Silent_p.F469F|TNIP1_ENST00000522226.1_Silent_p.F469F|TNIP1_ENST00000315050.7_Silent_p.F469F|TNIP1_ENST00000523338.1_Silent_p.F469F	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	469					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCCTCCTCGAAGATCTTCA	0.597000													4	132					0	0	0.150653	0	0
USP49	25862	broad.mit.edu	37	6	41767599	41767599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:41767599G>A	ENST00000394253.3	-	5	1968	c.1639C>T	c.(1639-1641)Cag>Tag	p.Q547*	USP49_ENST00000373006.1_Nonsense_Mutation_p.Q547*|USP49_ENST00000373010.1_Nonsense_Mutation_p.Q547*|USP49_ENST00000373009.3_Nonsense_Mutation_p.Q547*|USP49_ENST00000297229.2_Nonsense_Mutation_p.Q547*			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	547					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGAGAACCTGAGGTAGTCTG	0.488000													6	425					0	0	0.248553	0	0
SHOX2	6474	broad.mit.edu	37	3	157820574	157820574	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:157820574C>T	ENST00000490689.2	-	2	1594	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.E150K|SHOX2_ENST00000441443.2_Missense_Mutation_p.E21K|SHOX2_ENST00000425436.3_Missense_Mutation_p.E150K|SHOX2_ENST00000389589.4_Missense_Mutation_p.E174K			O60902	SHOX2_HUMAN	short stature homeobox 2	150					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E21*(1)|p.E174*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGAGTTGTTCCAGGGTGAAA	0.572000													40	236					0	0	0.827153	0	0
EPPK1	83481	broad.mit.edu	37	8	144940991	144940991	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:144940991C>T	ENST00000525985.1	-	2	6502	c.6431G>A	c.(6430-6432)aGa>aAa	p.R2144K				P58107	EPIPL_HUMAN	epiplakin 1	2144						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGTGTGTTCTATACATCCT	0.507000													74	387					0	0	0.870114	0	0
RPE65	6121	broad.mit.edu	37	1	68897200	68897200	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:68897200C>T	ENST00000262340.5	-	11	1250	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	399					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GCCAGATAGTCTCGTCACTGC	0.463000													25	42					0	0	0.717897	0	0
ECT2	1894	broad.mit.edu	37	3	172486838	172486838	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:172486838C>G	ENST00000417960.1	+	13	1714	c.1237C>G	c.(1237-1239)Cca>Gca	p.P413A	ECT2_ENST00000392692.3_Missense_Mutation_p.P445A|ECT2_ENST00000540509.1_Missense_Mutation_p.P445A|ECT2_ENST00000441497.2_Missense_Mutation_p.P414A|ECT2_ENST00000427830.1_Missense_Mutation_p.P414A|ECT2_ENST00000232458.5_Missense_Mutation_p.P414A	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	414					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAGCTCCACTCCAGTTCCTTC	0.348000													4	233					0	0	0.184627	0	0
DDX11	1663	broad.mit.edu	37	12	31237969	31237969	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:31237969G>A	ENST00000251758.5	+	5	798	c.547G>A	c.(547-549)Gag>Aag	p.E183K	DDX11_ENST00000407793.2_Missense_Mutation_p.E183K|DDX11_ENST00000350437.4_Missense_Mutation_p.E183K|DDX11_ENST00000228264.6_Missense_Mutation_p.E157K|DDX11_ENST00000545668.1_Missense_Mutation_p.E183K|DDX11_ENST00000542838.1_Missense_Mutation_p.E183K			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	183	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GACAGGCCCGGAGGCTGAGCG	0.597000										Multiple Myeloma(12;0.14)			7	18					0	0	0.307466	0	0
RP1L1	94137	broad.mit.edu	37	8	10468185	10468185	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:10468185G>C	ENST00000382483.3	-	4	3646	c.3423C>G	c.(3421-3423)ttC>ttG	p.F1141L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1141					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGAGTCTTTGAACCTCACTT	0.592000													20	85					0	0	0.592651	0	0
ALDH7A1	501	broad.mit.edu	37	5	125928409	125928409	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:125928409C>G	ENST00000409134.3	-	3	478	c.259G>C	c.(259-261)Gac>Cac	p.D87H	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.D114H|ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.D87H	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	87					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TCTTCATAGTCTGCCACACTG	0.368000													10	41					0	0	0.361761	0	0
GLB1L3	112937	broad.mit.edu	37	11	134182365	134182365	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:134182365C>T	ENST00000431683.2	+	14	1410	c.1410C>T	c.(1408-1410)caC>caT	p.H470H		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	470					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCGTGCCCACGCTCATGACG	0.587000													18	56					0	0	0.520397	0	0
SMAD4	4089	broad.mit.edu	37	18	48575103	48575103	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:48575103G>C	ENST00000342988.3	+	3	835	c.297G>C	c.(295-297)tgG>tgC	p.W99C	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.W99C|SMAD4_ENST00000452201.2_Missense_Mutation_p.W99C|SMAD4_ENST00000588745.1_Missense_Mutation_p.W99C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	99	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCCGTCTCTGGAGGTGGCCTG	0.378000													37	59					0	0	0.840704	0	0
MPP6	51678	broad.mit.edu	37	7	24703280	24703280	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:24703280G>A	ENST00000396475.2	+	7	1022	c.723G>A	c.(721-723)ttG>ttA	p.L241L	MPP6_ENST00000222644.4_Silent_p.L241L|MPP6_ENST00000409761.1_Silent_p.L129L	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	241	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AAGCAGGATTGAAGTTTTCCA	0.338000													41	114					0	0	0.840704	0	0
DNAH3	55567	broad.mit.edu	37	16	20975168	20975168	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:20975168G>C	ENST00000261383.3	-	53	10037	c.10038C>G	c.(10036-10038)atC>atG	p.I3346M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3346					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGATGTACTTGATGCGCAGAT	0.483000													40	135					0	0	0.834066	0	0
ACACA	31	broad.mit.edu	37	17	35600327	35600327	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:35600327C>T	ENST00000353139.5	-	22	3372	c.2891G>A	c.(2890-2892)aGc>aAc	p.S964N	ACACA_ENST00000360679.3_Missense_Mutation_p.S869N|ACACA_ENST00000394406.2_Missense_Mutation_p.S927N|ACACA_ENST00000335166.5_Missense_Mutation_p.S849N	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	927					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGTGATGTTGCTAGCATACTG	0.438000													88	188					0	0	0.870114	0	0
TBX5	6910	broad.mit.edu	37	12	114837439	114837439	+	Splice_Site	SNP	T	T	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:114837439T>G	ENST00000310346.4	-	4	909		c.e4-2		TBX5_ENST00000552726.1_Splice_Site|TBX5_ENST00000349716.5_Splice_Site|TBX5_ENST00000405440.2_Splice_Site|TBX5_ENST00000526441.1_Splice_Site	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5						cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AACATCCGCCTAAGAGAGAGG	0.478000													45	125					0	0	0.847076	0	0
CYLD	1540	broad.mit.edu	37	16	50783939	50783939	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:50783939C>A	ENST00000540145.1	+	4	745	c.330C>A	c.(328-330)ttC>ttA	p.F110L	CYLD_ENST00000398568.2_Missense_Mutation_p.F110L|CYLD_ENST00000427738.3_Missense_Mutation_p.F110L|CYLD_ENST00000311559.9_Missense_Mutation_p.F110L|CYLD_ENST00000569418.1_Missense_Mutation_p.F110L|CYLD_ENST00000568704.2_Missense_Mutation_p.F110L|CYLD_ENST00000564326.1_Missense_Mutation_p.F110L|CYLD_ENST00000566206.1_Missense_Mutation_p.F110L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	110	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGGAGAGGTTCAGCCTGTTTA	0.398000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				34	95					5.90632e-09	6.14058e-09	0.760397	1	0
CDHR3	222256	broad.mit.edu	37	7	105624678	105624678	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:105624678C>T	ENST00000542731.1	+	4	564	c.456C>T	c.(454-456)ttC>ttT	p.F152F	CDHR3_ENST00000317716.9_Silent_p.F152F|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000478080.1_Silent_p.F64F|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000541203.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	152	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ACCCTGGATTCATTTACCAGG	0.438000													8	45					0	0	0.307466	0	0
ROCK1	6093	broad.mit.edu	37	18	18629114	18629114	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:18629114G>A	ENST00000399799.1	-	4	1293	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	118	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GAAAAAAGCAGAATCAGATCT	0.368000													29	186					0	0	0.693898	0	0
PRKACG	5568	broad.mit.edu	37	9	71628520	71628520	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:71628520G>A	ENST00000377276.2	-	1	519	c.489C>T	c.(487-489)ctC>ctT	p.L163L		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	163	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CGCGGTGGATGAGGTCGAGCG	0.627000													8	23					0	0	0.278610	0	0
PDE8B	8622	broad.mit.edu	37	5	76700610	76700610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:76700610C>T	ENST00000264917.5	+	12	1321	c.1276C>T	c.(1276-1278)Cga>Tga	p.R426*	PDE8B_ENST00000346042.3_Nonsense_Mutation_p.R329*|PDE8B_ENST00000333194.4_Nonsense_Mutation_p.R426*|PDE8B_ENST00000340978.3_Nonsense_Mutation_p.R379*|PDE8B_ENST00000342343.4_Nonsense_Mutation_p.R406*	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	426					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GATATCATCTCGAGGCAGTGA	0.353000													18	76					0	0	0.557998	0	0
MAP3K5	4217	broad.mit.edu	37	6	136960771	136960771	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:136960771G>C	ENST00000359015.4	-	13	2204	c.1844C>G	c.(1843-1845)tCt>tGt	p.S615C	RP3-325F22.3_ENST00000432477.1_RNA|MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	615					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTCAAATTTAGAAATACTGAA	0.289000													13	37					0	0	0.457914	0	0
GBX1	2636	broad.mit.edu	37	7	150845891	150845891	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:150845891G>C	ENST00000297537.4	-	2	876	c.877C>G	c.(877-879)Cag>Gag	p.Q293E		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	293						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGCGATCTGAGAGCGCTCT	0.532000													38	91					0	0	0.812448	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855732	12855732	+	Missense_Mutation	SNP	G	G	A	rs139798913		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12855732G>A	ENST00000332296.7	+	4	1115	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.E93K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	338										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCAGTCTTGAACCCCTCGG	0.522000													81	267					0	0	0.870114	0	0
FCHSD2	9873	broad.mit.edu	37	11	72712082	72712082	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:72712082C>G	ENST00000409314.1	-	5	508	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	FCHSD2_ENST00000409418.4_Missense_Mutation_p.E114Q|FCHSD2_ENST00000311172.7_Missense_Mutation_p.E58Q|FCHSD2_ENST00000409853.1_Missense_Mutation_p.E58Q|FCHSD2_ENST00000458644.2_Intron			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	114							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTTGCAGGCTCAGAAATGAAG	0.368000													6	21					0	0	0.217242	0	0
BICD2	23299	broad.mit.edu	37	9	95482755	95482755	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:95482755C>T	ENST00000356884.6	-	4	956	c.889G>A	c.(889-891)Gag>Aag	p.E297K	BICD2_ENST00000375512.3_Missense_Mutation_p.E297K	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	297					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						ACCAGGGCCTCGGCATCGTTG	0.612000													44	89					0	0	0.847076	0	0
DTWD2	285605	broad.mit.edu	37	5	118176651	118176651	+	Silent	SNP	G	G	C	rs138333410		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:118176651G>C	ENST00000304058.4	-	6	730	c.660C>G	c.(658-660)ctC>ctG	p.L220L	DTWD2_ENST00000515439.3_Silent_p.L190L|DTWD2_ENST00000510708.1_Silent_p.L286L			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	286										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CCATTTTCCTGAGTTTGCGTT	0.348000													8	65					0	0	0.335167	0	0
VCPIP1	80124	broad.mit.edu	37	8	67547415	67547415	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:67547415G>C	ENST00000310421.4	-	3	3248	c.2990C>G	c.(2989-2991)tCa>tGa	p.S997*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	997					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGAGGGACTTGATTCCCTACT	0.438000													76	280					0	0	0.870114	0	0
PHACTR4	65979	broad.mit.edu	37	1	28806962	28806962	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:28806962G>A	ENST00000373839.3	+	9	1867		c.e9-1		PHACTR4_ENST00000373836.3_Splice_Site|PHACTR4_ENST00000493669.1_Splice_Site	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4								actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGTGCAAAGGTGCTCTCGC	0.428000													20	88					0	0	0.557998	0	0
LGALS9C	654346	broad.mit.edu	37	17	18396112	18396112	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:18396112G>T	ENST00000328114.6	+	10	944	c.863G>T	c.(862-864)tGg>tTg	p.W288L	LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000583322.1_Missense_Mutation_p.W255L|LGALS9C_ENST00000412421.2_Missense_Mutation_p.W200L	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	288	Beta-galactoside binding 2 (By similarity).|Galectin 2.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						AACAACTCTTGGGGGTCTGAG	0.572000													3	63					0.00010058	0.00010309	0.411799	1	0
PTGER4	5734	broad.mit.edu	37	5	40681095	40681095	+	Translation_Start_Site	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:40681095C>A	ENST00000302472.3	+	0	1024				PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)						G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CAGCCACTATCATGTCCACTC	0.602000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	111					6.3237e-29	6.80419e-29	0.870114	1	0
FLG	2312	broad.mit.edu	37	1	152281579	152281579	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152281579G>A	ENST00000368799.1	-	3	5818	c.5783C>T	c.(5782-5784)tCa>tTa	p.S1928L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1928	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)			AGAGTCTTCTGAGTGTCCCTG	0.567000									Ichthyosis				197	355					0	0	0.870114	0	0
WDR81	124997	broad.mit.edu	37	17	1635682	1635682	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:1635682C>T	ENST00000409644.1	+	5	4221	c.4221C>T	c.(4219-4221)ctC>ctT	p.L1407L	WDR81_ENST00000437219.2_Silent_p.L204L|WDR81_ENST00000419248.1_Silent_p.L180L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Silent_p.L46L|WDR81_ENST00000309182.5_Silent_p.L356L|WDR81_ENST00000545662.1_Silent_p.L38L	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	180										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCATCGCCCTCATCTGCCTGC	0.597000													52	113					0	0	0.870114	0	0
DUOX1	53905	broad.mit.edu	37	15	45426095	45426095	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:45426095G>A	ENST00000321429.4	+	4	499	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R31Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	31	Peroxidase-like; mediates peroxidase activity.				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)		GAGGTGCAGCGATTTGATGGG	0.592000													38	115					0	0	0.840704	0	0
CACNA1D	776	broad.mit.edu	37	3	53757550	53757550	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:53757550C>G	ENST00000288139.3	+	14	1934	c.1816C>G	c.(1816-1818)Ctt>Gtt	p.L606V	CACNA1D_ENST00000350061.5_Missense_Mutation_p.L586V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L586V	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	586					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)	TTTCGTCTCTCTTTTCAACCG	0.478000													12	273					0	0	0.387290	0	0
LRRC66	339977	broad.mit.edu	37	4	52860790	52860790	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:52860790C>T	ENST00000343457.3	-	4	2404	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	800						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GACAGGCCCTCAGATCTATCA	0.473000													18	49					0	0	0.520397	0	0
ZNF534	147658	broad.mit.edu	37	19	52941053	52941053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52941053C>T	ENST00000332323.6	+	4	440	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Nonsense_Mutation_p.Q114*	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATTAACTCTTCAGTTACATCT	0.348000													19	43					0	0	0.557998	0	0
KLC1	3831	broad.mit.edu	37	14	104129088	104129088	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:104129088C>T	ENST00000389744.4	+	5	890	c.621C>T	c.(619-621)taC>taT	p.Y207Y	KLC1_ENST00000452929.2_Silent_p.Y207Y|KLC1_ENST00000445352.4_Silent_p.Y207Y|KLC1_ENST00000380038.3_Silent_p.Y207Y|KLC1_ENST00000246489.7_Silent_p.Y207Y|RP11-73M18.2_ENST00000472726.2_Silent_p.Y379Y|KLC1_ENST00000334553.6_Silent_p.Y207Y|KLC1_ENST00000347839.6_Silent_p.Y207Y|KLC1_ENST00000553286.1_Silent_p.Y207Y|KLC1_ENST00000554280.1_Silent_p.Y207Y|KLC1_ENST00000557450.1_Silent_p.Y207Y|KLC1_ENST00000557575.1_Silent_p.Y207Y|KLC1_ENST00000555836.1_Silent_p.Y207Y|KLC1_ENST00000348520.6_Silent_p.Y207Y			Q07866	KLC1_HUMAN	kinesin light chain 1	207					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGGGCGGCTACGAGATCCCCG	0.622000													4	123					0	0	0.150653	0	0
B4GALT5	9334	broad.mit.edu	37	20	48330154	48330154	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:48330154G>A	ENST00000371711.4	-	1	261	c.74C>T	c.(73-75)tCg>tTg	p.S25L		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	25					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CAGCGAGGACGAGAGAGAAAA	0.706000													3	5					0	0	0.115264	0	0
INPP5D	3635	broad.mit.edu	37	2	234094512	234094512	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:234094512G>C	ENST00000359570.5	+	23	2263	c.2263G>C	c.(2263-2265)Gaa>Caa	p.E755Q	INPP5D_ENST00000455936.2_Missense_Mutation_p.E519Q|INPP5D_ENST00000450745.1_Missense_Mutation_p.E519Q			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	767					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCAGGAAGGAGAAAATGAAGA	0.478000													9	25					0	0	0.387290	0	0
MCAM	4162	broad.mit.edu	37	11	119185721	119185721	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:119185721G>A	ENST00000264036.4	-	3	236	c.222C>T	c.(220-222)ttC>ttT	p.F74F	MCAM_ENST00000530144.2_5'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	74	Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGCGCACACGGAAGATGAGCG	0.647000													56	156					0	0	0.870114	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218433	208218433	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:208218433G>A	ENST00000367033.3	-	19	4375	c.3618C>T	c.(3616-3618)ctC>ctT	p.L1206L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1206	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCTGCCCGGTGAGGTTGGGAG	0.577000													5	104					0	0	0.217242	0	0
COL3A1	1281	broad.mit.edu	37	2	189864098	189864098	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:189864098G>A	ENST00000304636.3	+	30	2280	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E704K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	704	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCCTGGTCCCGAAGGAGGAAA	0.483000													10	35					0	0	0.361761	0	0
MPRIP	23164	broad.mit.edu	37	17	17062051	17062051	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:17062051A>T	ENST00000395811.5	+	14	1870	c.1781A>T	c.(1780-1782)aAg>aTg	p.K594M	MPRIP_ENST00000444976.1_Missense_Mutation_p.K556M|MPRIP_ENST00000395804.3_Missense_Mutation_p.K594M|MPRIP_ENST00000341712.4_Missense_Mutation_p.K594M	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	594	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding	p.R587_G597delRRREERRKRFG(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAGCGCCGCAAGCGCTTCGGG	0.731000													18	41					0	0	0.557998	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835129	24835129	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:24835129C>T	ENST00000376454.3	+	21	5738	c.5708C>T	c.(5707-5709)tCc>tTc	p.S1903F	KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1309F|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1224F|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1334F	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1903	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						cctgcctcctccgtctcACTG	0.542000													30	49					0	0	0.706142	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52724383	52724383	+	Silent	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52724383C>A	ENST00000322088.6	+	12	1573	c.1515C>A	c.(1513-1515)atC>atA	p.I505I	PPP2R1A_ENST00000444322.2_Silent_p.I450I|PPP2R1A_ENST00000462990.1_Silent_p.I326I	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	505	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TCTTCTGCATCAATGTGAGCC	0.597000			Mis		clear cell ovarian carcinoma								38	129					4.32679e-17	4.59139e-17	0.827153	1	0
PHACTR4	65979	broad.mit.edu	37	1	28807096	28807096	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:28807096G>C	ENST00000373839.3	+	9	2001	c.1740G>C	c.(1738-1740)caG>caC	p.Q580H	PHACTR4_ENST00000373836.3_Missense_Mutation_p.Q590H|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	580							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TACGGCACCAGATTGGAAACA	0.418000													47	211					0	0	0.870114	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338537	28338537	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:28338537G>A	ENST00000284987.5	-	1	295	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	58					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCGGGTGGCCGGGAGGCTCGG	0.726000													6	39					0	0	0.248553	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745719	135745719	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:135745719G>C	ENST00000375845.3	-	7	753	c.723C>G	c.(721-723)ctC>ctG	p.L241L	MAP3K19_ENST00000392915.1_Silent_p.L258L|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.L128L|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CAAAAGATGTGAGACTTGGAA	0.473000													34	168					0	0	0.760397	0	0
STK36	27148	broad.mit.edu	37	2	219538430	219538430	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:219538430G>A	ENST00000295709.3	+	3	446	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	STK36_ENST00000440309.1_Missense_Mutation_p.R56Q|STK36_ENST00000392105.3_Missense_Mutation_p.R56Q|STK36_ENST00000392106.2_Missense_Mutation_p.R56Q	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	56	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GAAATAATGCGGGGTCTGCGG	0.498000													14	61					0	0	0.435327	0	0
AADACL4	343066	broad.mit.edu	37	1	12726745	12726745	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12726745G>A	ENST00000376221.1	+	4	1223	c.1223G>A	c.(1222-1224)tGa>tAa	p.*408*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	0						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		AAGGGCATATGATAGTAACCC	0.438000													39	128					0	0	0.834066	0	0
MROH7	374977	broad.mit.edu	37	1	55130890	55130890	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:55130890G>C	ENST00000414150.2	+	4	1560	c.1282G>C	c.(1282-1284)Gaa>Caa	p.E428Q	MROH7_ENST00000421030.2_Missense_Mutation_p.E428Q|MROH7_ENST00000395690.2_Missense_Mutation_p.E428Q|MROH7_ENST00000409996.1_5'UTR|MROH7_ENST00000545244.1_5'UTR|MROH7_ENST00000339553.5_Missense_Mutation_p.E428Q|MROH7_ENST00000454855.2_5'UTR					maestro heat-like repeat family member 7																		AGAGAAGACAGAAGGTGGCAA	0.552000													9	82					0	0	0.435327	0	0
COL1A1	1277	broad.mit.edu	37	17	48267430	48267430	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48267430C>T	ENST00000225964.5	-	36	2609	c.2491G>A	c.(2491-2493)Gat>Aat	p.D831N		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	831	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCACCAGCATCACCAGGTTCG	0.662000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						33	100					0	0	0.796494	0	0
OR6C3	254786	broad.mit.edu	37	12	55726127	55726127	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:55726127T>C	ENST00000379667.1	+	1	643	c.643T>C	c.(643-645)Tac>Cac	p.Y215H		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GATTTTATCTTACATGTACAT	0.363000													76	193					0	0	0.870114	0	0
HMGA1	3159	broad.mit.edu	37	6	34208574	34208574	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:34208574C>A	ENST00000447654.1	+	2	506	c.17C>A	c.(16-18)tCg>tAg	p.S6*	HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000374116.3_Nonsense_Mutation_p.S6*|HMGA1_ENST00000347617.6_Nonsense_Mutation_p.S6*|HMGA1_ENST00000395004.3_Nonsense_Mutation_p.S6*|HMGA1_ENST00000311487.5_Nonsense_Mutation_p.S6*|HMGA1_ENST00000401473.3_Nonsense_Mutation_p.S6*	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	6					DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration	chromatin|cytosol|transcription factor complex	AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity			lung(1)	1						GAGTCGAGCTCGAAGTCCAGC	0.592000			T	?	"""microfollicular thyroid adenoma,  various benign mesenchymal tumors,"""								3	69					0.115264	0.116589	0.115264	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720878	140720878	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140720878C>T	ENST00000394576.2	+	1	2340	c.2340C>T	c.(2338-2340)atC>atT	p.I780I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGCTCATCAGCCAGGAGA	0.498000													47	133					0	0	0.870114	0	0
RASGRP3	25780	broad.mit.edu	37	2	33752314	33752314	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:33752314G>A	ENST00000403687.3	+	10	1658	c.918G>A	c.(916-918)ttG>ttA	p.L306L	RASGRP3_ENST00000402538.3_Silent_p.L306L|RASGRP3_ENST00000407811.1_Silent_p.L306L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	306	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GAGTACACTTGAAAGACTTGA	0.473000													10	58					0	0	0.335167	0	0
ZNF83	55769	broad.mit.edu	37	19	53117232	53117232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:53117232G>A	ENST00000597597.1	-	2	2839	c.586C>T	c.(586-588)Caa>Taa	p.Q196*	ZNF83_ENST00000541777.2_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000301096.3_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000391789.4_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000544146.1_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000536937.1_Nonsense_Mutation_p.Q196*			P51522	ZNF83_HUMAN	zinc finger protein 83	196						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGAATTCTTTGATGTTGTGCA	0.383000													42	141					0	0	0.819951	0	0
MUC17	140453	broad.mit.edu	37	7	100683466	100683466	+	Silent	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100683466T>C	ENST00000306151.4	+	3	8833	c.8769T>C	c.(8767-8769)ccT>ccC	p.P2923P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2923	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTCAACTCCTAGTGAAGTAA	0.483000													154	355					0	0	0.870114	0	0
MYO9A	4649	broad.mit.edu	37	15	72170385	72170385	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:72170385G>A	ENST00000356056.5	-	31	6399	c.5927C>T	c.(5926-5928)aCa>aTa	p.T1976I	MYO9A_ENST00000424560.1_Missense_Mutation_p.T2047I|MYO9A_ENST00000444904.1_Missense_Mutation_p.T1957I|MYO9A_ENST00000564571.1_Missense_Mutation_p.T1976I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1976	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTTACCTTTGTGGCTGTGCA	0.308000													24	67					0	0	0.729181	0	0
FNDC1	84624	broad.mit.edu	37	6	159654085	159654085	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:159654085C>T	ENST00000297267.9	+	11	2741	c.2541C>T	c.(2539-2541)agC>agT	p.S847S	FNDC1_ENST00000340366.6_Silent_p.S784S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	847						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCCTCCAGCTCCCCACAGT	0.607000													7	16					0	0	0.248553	0	0
CSMD3	114788	broad.mit.edu	37	8	113301749	113301749	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:113301749G>A	ENST00000297405.5	-	57	9237	c.8993C>T	c.(8992-8994)cCt>cTt	p.P2998L	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2958L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2829L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2928L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2998	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGAACGCCAGGGTGTCCACA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	47					0	0	0.667858	0	0
PNKP	11284	broad.mit.edu	37	19	50364730	50364730	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:50364730G>A	ENST00000322344.3	-	16	1533	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	PNKP_ENST00000600573.1_Missense_Mutation_p.S444L|PNKP_ENST00000600910.1_Silent_p.V438V|PNKP_ENST00000596014.1_Missense_Mutation_p.S475L	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	475					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GACCATGTCTGACACGGGGAT	0.622000								Other BER factors					27	83					0	0	0.740014	0	0
RMDN2	151393	broad.mit.edu	37	2	38179071	38179071	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:38179071G>A	ENST00000407257.1	+	2	860	c.713G>A	c.(712-714)aGg>aAg	p.R238K	RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000234195.3_Missense_Mutation_p.R238K|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.R238K					regulator of microtubule dynamics 2																		ATTCAACAAAGGGGCCAATTA	0.398000													39	168					0	0	0.804634	0	0
ADAM15	8751	broad.mit.edu	37	1	155034448	155034448	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:155034448G>A	ENST00000356955.2	+	21	2522	c.2421G>A	c.(2419-2421)ccG>ccA	p.P807P	ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000359280.4_Silent_p.P782P|ADAM15_ENST00000449910.2_Silent_p.P806P|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000368412.3_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	807					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGAGAAGCCCGAAGGTAACGG	0.677000											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97	141					0	0	0.870114	0	0
XKR4	114786	broad.mit.edu	37	8	56015534	56015534	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:56015534C>T	ENST00000327381.5	+	1	586	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	162						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGCAAGTGTTCAGCTTCCGCT	0.652000													24	63					0	0	0.639603	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345198	135345198	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:135345198G>C	ENST00000463117.2	+	5	719	c.447G>C	c.(445-447)agG>agC	p.R149S	CYP2E1_ENST00000252945.3_Missense_Mutation_p.R149S|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000480558.1_3'UTR			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	149					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GGATCCAGAGGGAGGCCCACT	0.597000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				59	72					0	0	0.870114	0	0
FRRS1	391059	broad.mit.edu	37	1	100203724	100203724	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:100203724C>G	ENST00000414213.1	-	7	1278	c.677G>C	c.(676-678)aGa>aCa	p.R226T	FRRS1_ENST00000287474.5_Missense_Mutation_p.R226T			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	226	DOMON.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TTGGTCATCTCTTGTGAAGGA	0.458000													11	127					0	0	0.361761	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213694	3213694	+	RNA	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:3213694C>G	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							AGCCCATCCTCTTTGTCATCT	0.527000													32	95					0	0	0.760397	0	0
POTEA	340441	broad.mit.edu	37	8	43173738	43173738	+	RNA	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:43173738C>T	ENST00000522175.2	+	0	1024							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGCAATTTCCTAACACAGAG	0.393000													18	72					0	0	0.520397	0	0
MTA2	9219	broad.mit.edu	37	11	62364201	62364201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:62364201C>A	ENST00000278823.2	-	9	1179	c.790G>T	c.(790-792)Gag>Tag	p.E264*	MTA2_ENST00000524902.1_Nonsense_Mutation_p.E91*|MTA2_ENST00000527204.1_Nonsense_Mutation_p.E91*	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	264	SANT.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCCTCCATCTCATCCCGACAC	0.537000													54	110					9.55421e-19	1.0156e-18	0.870114	1	0
TMC6	11322	broad.mit.edu	37	17	76121048	76121048	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:76121048C>T	ENST00000590602.1	-	7	714	c.555G>A	c.(553-555)ccG>ccA	p.P185P	TMC6_ENST00000589553.1_Intron|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Silent_p.P185P|TMC6_ENST00000392467.3_Silent_p.P185P|TMC6_ENST00000306591.7_Silent_p.P185P			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	185						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACTTCCCCCTCGGGGTCCTGC	0.682000													6	6					0	0	0.307466	0	0
IPO11	51194	broad.mit.edu	37	5	61779927	61779927	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:61779927C>G	ENST00000325324.6	+	11	1281	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.S411C	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	371						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AGATTAGTCTCTCATTATTTC	0.343000													6	159					0	0	0.217242	0	0
OR1S1	219959	broad.mit.edu	37	11	57982933	57982933	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:57982933G>A	ENST00000309433.6	+	1	717	c.717G>A	c.(715-717)ctG>ctA	p.L239L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L239L(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GAGCTGTCCTGAGAGTATCTT	0.438000													42	75					0	0	0.853193	0	0
ACADVL	37	broad.mit.edu	37	17	7128359	7128359	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:7128359C>T	ENST00000356839.5	+	20	2090	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	ACADVL_ENST00000350303.5_Silent_p.I615I|ACADVL_ENST00000543245.2_Silent_p.I660I	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	637					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TCAAAAGCATCTCCAAGGCCT	0.617000													38	142					0	0	0.859065	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913599	77913599	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:77913599C>T	ENST00000321110.1	-	2	614	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	107	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCTGGGGCCTCCTGGAGTTCC	0.637000													8	13					0	0	0.335167	0	0
CGN	57530	broad.mit.edu	37	1	151491282	151491282	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:151491282C>G	ENST00000271636.7	+	2	420	c.287C>G	c.(286-288)tCa>tGa	p.S96*		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	90	Head.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCTGAGCTCAGATTTGGAA	0.577000													26	53					0	0	0.681144	0	0
POU2F2	5452	broad.mit.edu	37	19	42600360	42600360	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:42600360G>C	ENST00000342301.4	-	8	603	c.537C>G	c.(535-537)ctC>ctG	p.L179L	POU2F2_ENST00000529952.1_Silent_p.L179L|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000526816.2_Silent_p.L179L|POU2F2_ENST00000389341.5_Intron|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000533720.1_Intron|POU2F2_ENST00000560398.1_Intron			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	179					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GCGGGTGCGAGAGGTGCGGGT	0.687000													6	29					0	0	0.248553	0	0
ZNF547	284306	broad.mit.edu	37	19	57883219	57883219	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:57883219C>T	ENST00000282282.3	+	3	244	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	AC003002.4_ENST00000597658.1_Nonsense_Mutation_p.Q32*	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGATGAGGCTCAGAGATTGCT	0.512000													10	494					0	0	0.387290	0	0
FAM98A	25940	broad.mit.edu	37	2	33824236	33824236	+	Splice_Site	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:33824236C>G	ENST00000403368.1	-	1	122	c.53_splice	c.e1+1	p.G18_splice	FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000238823.8_Splice_Site_p.G18_splice	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	18										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACAATCTTACCCTAGATCTTC	0.597000													5	258					0	0	0.184627	0	0
SIGIRR	59307	broad.mit.edu	37	11	407115	407115	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:407115G>A	ENST00000431843.2	-	7	981	c.675C>T	c.(673-675)atC>atT	p.I225I	SIGIRR_ENST00000397632.3_Silent_p.I225I|SIGIRR_ENST00000531205.1_Silent_p.I225I|SIGIRR_ENST00000332725.3_Silent_p.I225I|SIGIRR_ENST00000382520.2_Silent_p.I225I	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	225	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAAGCACCACGATGAGGCGTC	0.761000													5	14					0	0	0.217242	0	0
LRTM2	654429	broad.mit.edu	37	12	1943843	1943843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:1943843G>T	ENST00000543818.1	+	5	1911	c.1069G>T	c.(1069-1071)Gag>Tag	p.E357*	LRTM2_ENST00000535041.1_Nonsense_Mutation_p.E357*|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000299194.1_Nonsense_Mutation_p.E357*|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	357						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGGGGACCCCGAGGGCGAGCA	0.652000													31	79					3.93418e-24	4.20739e-24	0.796494	1	0
HTR3D	200909	broad.mit.edu	37	3	183756393	183756393	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183756393C>T	ENST00000382489.3	+	7	1116	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	HTR3D_ENST00000453435.1_Silent_p.L151L|HTR3D_ENST00000428798.2_Silent_p.L322L|HTR3D_ENST00000334128.2_Silent_p.L197L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	372						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCCGGGTCTCACCCCCACCC	0.642000													5	77					0	0	0.217242	0	0
NOS2	4843	broad.mit.edu	37	17	26114705	26114705	+	Splice_Site	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:26114705C>G	ENST00000313735.6	-	5	699	c.467_splice	c.e5+1	p.E156_splice		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	156					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AAGCCTTACTCTTTGAAGGAG	0.517000													47	118					0	0	0.870114	0	0
KIF2B	84643	broad.mit.edu	37	17	51901140	51901140	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:51901140C>T	ENST00000268919.4	+	1	902	c.746C>T	c.(745-747)tCc>tTc	p.S249F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	249	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGCATGAGTCCAAGCAAAAG	0.537000													22	40					0	0	0.592651	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701723	96701723	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:96701723G>A	ENST00000260682.6	+	2	289	c.277G>A	c.(277-279)Gag>Aag	p.E93K	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	93					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCTTGGAGAGGAGTTTTCTGG	0.493000													7	256					0	0	0.248553	0	0
SPG11	80208	broad.mit.edu	37	15	44878014	44878014	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:44878014C>G	ENST00000261866.7	-	29	4957	c.4941G>C	c.(4939-4941)caG>caC	p.Q1647H	SPG11_ENST00000427534.2_Missense_Mutation_p.Q1647H|SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000558319.1_Missense_Mutation_p.Q1647H|SPG11_ENST00000535302.2_Missense_Mutation_p.Q1647H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1647					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCTTCAAAATCTGGCAAAGGA	0.358000													38	157					0	0	0.834066	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55340901	55340901	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55340901C>G	ENST00000391728.4	+	7	1119	c.1086C>G	c.(1084-1086)ctC>ctG	p.L362L	KIR3DL1_ENST00000541392.1_Silent_p.L345L|KIR3DL1_ENST00000538269.1_Silent_p.L362L|KIR3DL1_ENST00000358178.4_Silent_p.L267L|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Silent_p.L345L	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		tccttcatctcTGGTGCTCCA	0.532000													52	80					0	0	0.870114	0	0
CLSPN	63967	broad.mit.edu	37	1	36230196	36230196	+	Missense_Mutation	SNP	C	C	T	rs139161179	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:36230196C>T	ENST00000251195.5	-	3	349	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CLSPN_ENST00000520551.1_Missense_Mutation_p.E85K|CLSPN_ENST00000373220.3_Missense_Mutation_p.E85K|CLSPN_ENST00000318121.3_Missense_Mutation_p.E85K			Q9HAW4	CLSPN_HUMAN	claspin	85					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTCCTCCTCGGCACTGTCA	0.373000													23	160					0	0	0.624587	0	0
TMEM55A	55529	broad.mit.edu	37	8	92032432	92032432	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:92032432G>A	ENST00000285419.3	-	3	629	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	105						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CCTTACAAATGAGAAGACAAT	0.378000													30	151					0	0	0.769981	0	0
ACLY	47	broad.mit.edu	37	17	40040448	40040448	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:40040448C>G	ENST00000352035.2	-	19	2282	c.2152G>C	c.(2152-2154)Gag>Cag	p.E718Q	ACLY_ENST00000537919.1_Missense_Mutation_p.E447Q|ACLY_ENST00000353196.1_Missense_Mutation_p.E708Q|ACLY_ENST00000590151.1_Missense_Mutation_p.E718Q|ACLY_ENST00000393896.2_Missense_Mutation_p.E708Q	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	718					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TAACTCACCTCTCCAAGAACC	0.358000													25	62					0	0	0.681144	0	0
IDS	3423	broad.mit.edu	37	X	148586602	148586602	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:148586602G>A	ENST00000340855.6	-	1	275	c.66C>T	c.(64-66)gtC>gtT	p.V22V	AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000428056.2_Silent_p.V22V|IDS_ENST00000370441.4_Silent_p.V22V|IDS_ENST00000370443.4_Silent_p.V22V|IDS_ENST00000541269.1_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	22						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ATCCGAGGGCGACGCAGACGG	0.682000													17	24					0	0	0.575678	0	0
AP2M1	1173	broad.mit.edu	37	3	183896864	183896864	+	Missense_Mutation	SNP	G	G	C	rs71798037		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183896864G>C	ENST00000382456.3	+	3	608	c.294G>C	c.(292-294)gaG>gaC	p.E98D	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Missense_Mutation_p.E123D|AP2M1_ENST00000292807.5_Missense_Mutation_p.E98D|AP2M1_ENST00000439647.1_Missense_Mutation_p.E98D	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	98					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGATCAGCGAGGAAAACATCA	0.522000													47	341					0	0	0.870114	0	0
ESRP1	54845	broad.mit.edu	37	8	95683700	95683700	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:95683700C>T	ENST00000433389.2	+	11	1443	c.1253C>T	c.(1252-1254)tCg>tTg	p.S418L	ESRP1_ENST00000358397.5_Missense_Mutation_p.S418L|ESRP1_ENST00000454170.2_Missense_Mutation_p.S418L|ESRP1_ENST00000423620.2_Missense_Mutation_p.S418L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	418					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CGATTCTCCTCGGCCCCTCTC	0.483000													30	73					0	0	0.729181	0	0
RIMKLB	57494	broad.mit.edu	37	12	8906664	8906664	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:8906664G>C	ENST00000357529.3	+	6	1934	c.672G>C	c.(670-672)ggG>ggC	p.G224G	RIMKLB_ENST00000535829.1_Silent_p.G224G|RIMKLB_ENST00000538135.1_Silent_p.G224G|RIMKLB_ENST00000299673.5_3'UTR	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	224	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAACAGATGGGAGAATGCAAA	0.383000													37	110					0	0	0.840704	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128268677	128268677	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:128268677C>T	ENST00000265960.3	-	8	1310	c.978G>A	c.(976-978)gaG>gaA	p.E326E	MAPKAP1_ENST00000373503.3_Silent_p.E134E|MAPKAP1_ENST00000373498.1_Silent_p.E326E|MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000394063.1_Silent_p.E134E|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373511.2_Silent_p.E326E	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	326					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CGCTCTGCTTCTCCAGGCGGT	0.552000													35	107					0	0	0.788014	0	0
GPD2	2820	broad.mit.edu	37	2	157425415	157425415	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:157425415C>G	ENST00000310454.6	+	10	1616	c.1244C>G	c.(1243-1245)tCt>tGt	p.S415C	GPD2_ENST00000409674.1_Missense_Mutation_p.S415C|GPD2_ENST00000438166.2_Missense_Mutation_p.S415C|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.S188C	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	415					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GATACTCAGTCTATCTCCCGA	0.413000													61	241					0	0	0.870114	0	0
MYH1	4619	broad.mit.edu	37	17	10415430	10415430	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10415430G>A	ENST00000226207.5	-	13	1321	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	409	Myosin head-like.					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						ACTCATTGCCGACCTTGACCC	0.458000													133	321					0	0	0.870114	0	0
LRBA	987	broad.mit.edu	37	4	151509251	151509251	+	Silent	SNP	G	G	C	rs4613549		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:151509251G>C	ENST00000535741.1	-	40	6752	c.6279C>G	c.(6277-6279)ctC>ctG	p.L2093L	LRBA_ENST00000357115.3_Silent_p.L2104L|LRBA_ENST00000507224.1_Silent_p.L2093L|LRBA_ENST00000510413.1_Silent_p.L2093L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2104						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCTCAAAATAGAGTTCGGAGG	0.473000													5	289					0	0	0.184627	0	0
NFIC	4782	broad.mit.edu	37	19	3435121	3435121	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:3435121G>C	ENST00000589123.1	+	6	967	c.847G>C	c.(847-849)Gac>Cac	p.D283H	NFIC_ENST00000395111.3_Missense_Mutation_p.D283H|NFIC_ENST00000346156.5_Missense_Mutation_p.D259H|NFIC_ENST00000341919.3_Missense_Mutation_p.D292H|NFIC_ENST00000590282.1_Missense_Mutation_p.D292H|NFIC_ENST00000586919.1_Missense_Mutation_p.D259H|NFIC_ENST00000443272.2_Missense_Mutation_p.D292H	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	292					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGAAGACGTGGACACGAGCCC	0.662000													4	4					0	0	0.150653	0	0
ERBB4	2066	broad.mit.edu	37	2	212530143	212530143	+	Silent	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:212530143T>C	ENST00000342788.4	-	15	2086	c.1776A>G	c.(1774-1776)aaA>aaG	p.K592K	ERBB4_ENST00000436443.1_Silent_p.K592K|ERBB4_ENST00000402597.1_Silent_p.K592K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	592	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CATCTGGACATTTTTCCACAC	0.433000										TSP Lung(8;0.080)			28	85					0	0	0.717897	0	0
VPS41	27072	broad.mit.edu	37	7	38785180	38785180	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:38785180C>G	ENST00000310301.4	-	23	2014	c.1960G>C	c.(1960-1962)Gaa>Caa	p.E654Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E629Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	654					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACTGTCTCTTCTACAAAGTTT	0.338000													62	167					0	0	0.870114	0	0
TRPM2	7226	broad.mit.edu	37	21	45826645	45826645	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45826645G>T	ENST00000397928.1	+	19	3404	c.2959G>T	c.(2959-2961)Gac>Tac	p.D987Y	TRPM2_ENST00000300482.5_Missense_Mutation_p.D987Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.D987Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.D967Y	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	987						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGCTACATCGACGGTAGGAG	0.667000													6	12					0.00116845	0.00119166	0.217242	1	0
RBM45	129831	broad.mit.edu	37	2	178977396	178977396	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:178977396G>C	ENST00000286070.5	+	1	215	c.123G>C	c.(121-123)ctG>ctC	p.L41L		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	41	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AGTCGGTGCTGAGGGAGCGCT	0.627000											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	91					0	0	0.624587	0	0
MYO16	23026	broad.mit.edu	37	13	109496836	109496836	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:109496836G>A	ENST00000356711.2	+	10	1303	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	MYO16_ENST00000357550.2_Missense_Mutation_p.E393K|MYO16_ENST00000251041.5_Missense_Mutation_p.E393K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	393					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CACCAAACCCGAGCAGGTAAT	0.388000													18	63					0	0	0.592651	0	0
OSGIN2	734	broad.mit.edu	37	8	90926409	90926409	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:90926409G>C	ENST00000451899.2	+	3	564	c.304G>C	c.(304-306)Gaa>Caa	p.E102Q	OSGIN2_ENST00000297438.2_Missense_Mutation_p.E58Q|OSGIN2_ENST00000520659.1_Missense_Mutation_p.E102Q	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	58					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TAGTAAATTAGAAGAAGCAAG	0.289000													38	157					0	0	0.804634	0	0
ME3	10873	broad.mit.edu	37	11	86160950	86160950	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:86160950G>C	ENST00000543262.1	-	10	1438	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.S371C|ME3_ENST00000359636.2_Missense_Mutation_p.S371C	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	371					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GAGCCCTTTAGAGTCCACCAT	0.522000													75	160					0	0	0.870114	0	0
SLC25A41	284427	broad.mit.edu	37	19	6427441	6427441	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:6427441G>A	ENST00000321510.6	-	5	764	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	232					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						CTCGCTGCAAGATCTGCCTGG	0.627000													5	12					0	0	0.217242	0	0
MACF1	23499	broad.mit.edu	37	1	39792905	39792905	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:39792905G>A	ENST00000564288.1	+	36	5271	c.4494G>A	c.(4492-4494)gaG>gaA	p.E1498E	MACF1_ENST00000372915.3_Silent_p.E1503E|MACF1_ENST00000317713.7_Silent_p.E1503E|MACF1_ENST00000539005.1_Silent_p.E1503E|MACF1_ENST00000567887.1_Silent_p.E1535E|MACF1_ENST00000361689.2_Silent_p.E1503E|MACF1_ENST00000545844.1_Silent_p.E1503E|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1503					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGAAAAAGAGAAGAAACAAA	0.388000													13	74					0	0	0.435327	0	0
RFX6	222546	broad.mit.edu	37	6	117232167	117232167	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:117232167C>T	ENST00000332958.2	+	7	758	c.742C>T	c.(742-744)Caa>Taa	p.Q248*	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	248					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCCCAGCGCTCAACACCTTGT	0.363000													40	169					0	0	0.859065	0	0
SNHG14	104472715	broad.mit.edu	37	15	25304817	25304817	+	RNA	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:25304817G>A	ENST00000549804.2	+	0	210																											TGGAGTGAGGGAGAGCTTCCA	0.522000													14	67					0	0	0.500413	0	0
CSRNP1	64651	broad.mit.edu	37	3	39184825	39184825	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:39184825G>C	ENST00000273153.5	-	5	1668	c.1491C>G	c.(1489-1491)ctC>ctG	p.L497L	CSRNP1_ENST00000514182.1_Silent_p.L497L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	497					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						AAGACAAGCTGAGATCCACTG	0.552000													28	33					0	0	0.693898	0	0
MUC3A	4584	broad.mit.edu	37	7	100552961	100552961	+	Nonsense_Mutation	SNP	C	C	T	rs148590091	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100552961C>T	ENST00000319509.7	+	2	1606	c.1606C>T	c.(1606-1608)Cag>Tag	p.Q536*						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTGTCAGCTCCAGACCAGATG	0.557000													7	131					0	0	0.479597	0	0
CHRM5	1133	broad.mit.edu	37	15	34356124	34356124	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:34356124C>G	ENST00000383263.5	+	3	1876	c.1206C>G	c.(1204-1206)atC>atG	p.I402M	CHRM5_ENST00000557872.1_Missense_Mutation_p.I402M	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	402					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	AGGTGAAAATCATGCCCTGCC	0.502000													3	135					0	0	0.115264	0	0
AGO3	192669	broad.mit.edu	37	1	36521242	36521242	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:36521242G>A	ENST00000373191.4	+	19	2828	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K	AGO3_ENST00000246314.6_Missense_Mutation_p.E593K	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		TTACAGTGCTGAAGGAAGTCA	0.378000													10	212					0	0	0.361761	0	0
POGZ	23126	broad.mit.edu	37	1	151377284	151377284	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:151377284C>G	ENST00000271715.2	-	19	4541	c.4227G>C	c.(4225-4227)gaG>gaC	p.E1409D	POGZ_ENST00000491586.1_Missense_Mutation_p.E1365D|POGZ_ENST00000540984.1_Missense_Mutation_p.E771D|POGZ_ENST00000531094.1_Missense_Mutation_p.E1347D|POGZ_ENST00000368863.2_Missense_Mutation_p.E1314D|POGZ_ENST00000392723.1_Missense_Mutation_p.E1356D|POGZ_ENST00000409503.1_Missense_Mutation_p.E1400D|POGZ_ENST00000361398.3_Missense_Mutation_p.E1356D	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1409					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACACTCAAATCTCCATCAGAT	0.507000											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	34	73					0	0	0.870114	0	0
GRHL1	29841	broad.mit.edu	37	2	10098934	10098934	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:10098934C>T	ENST00000324907.9	+	3	363	c.227C>T	c.(226-228)tCa>tTa	p.S76L	GRHL1_ENST00000405379.2_Missense_Mutation_p.S76L|GRHL1_ENST00000324883.5_5'UTR	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	76	Transcription activation.				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GAGAGAAGGTCATCAACAGCA	0.443000													15	46					0	0	0.500413	0	0
CCDC67	159989	broad.mit.edu	37	11	93127665	93127665	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:93127665C>G	ENST00000298050.3	+	10	1182	c.1082C>G	c.(1081-1083)tCt>tGt	p.S361C	CCDC67_ENST00000525646.1_Missense_Mutation_p.S103C	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	361										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TACCATAACTCTGAGCAGGAA	0.393000													9	13					0	0	0.387290	0	0
CTBP2	1488	broad.mit.edu	37	10	126681775	126681775	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:126681775G>A	ENST00000309035.6	-	7	2785	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	CTBP2_ENST00000531469.1_Silent_p.I345I|CTBP2_ENST00000411419.2_Silent_p.I345I|CTBP2_ENST00000337195.5_Silent_p.I345I|CTBP2_ENST00000494626.2_Silent_p.I345I|CTBP2_ENST00000334808.6_Silent_p.I413I	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	345					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCTCACCTGTGATGGCTCGGC	0.642000													9	14					0	0	0.539581	0	0
RNH1	6050	broad.mit.edu	37	11	500607	500607	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:500607G>C	ENST00000534797.1	-	2	1556	c.149C>G	c.(148-150)tCt>tGt	p.S50C	RNH1_ENST00000397614.1_Missense_Mutation_p.S50C|RNH1_ENST00000397604.3_Missense_Mutation_p.S50C|RNH1_ENST00000533410.1_Missense_Mutation_p.S50C|RNH1_ENST00000356187.5_Missense_Mutation_p.S50C|RNH1_ENST00000354420.2_Missense_Mutation_p.S50C|RNH1_ENST00000397615.2_Missense_Mutation_p.S50C|RNH1_ENST00000438658.2_Missense_Mutation_p.S50C			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	50					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCGAAGTGCAGAGCTGATGTC	0.642000													20	60					0	0	0.592651	0	0
FAM81B	153643	broad.mit.edu	37	5	94784011	94784011	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:94784011G>C	ENST00000283357.5	+	9	1114	c.1068G>C	c.(1066-1068)caG>caC	p.Q356H		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	356										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AACTGCTGCAGCTTTCAAGCA	0.313000													9	52					0	0	0.335167	0	0
SSTR1	6751	broad.mit.edu	37	14	38678632	38678632	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:38678632C>G	ENST00000267377.2	+	3	655	c.38C>G	c.(37-39)tCt>tGt	p.S13C		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	13					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)	CCTTCCTCCTCTCCTAGCCCC	0.746000													11	6					0	0	0.435327	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43636430	43636430	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:43636430C>T	ENST00000431635.2	-	5	757	c.609G>A	c.(607-609)caG>caA	p.Q203Q	EBNA1BP2_ENST00000236051.2_Silent_p.Q148Q	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	148					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCTTACCTTCTGCATCTGCA	0.453000													77	308					0	0	0.870114	0	0
TJP3	27134	broad.mit.edu	37	19	3734394	3734394	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:3734394C>T	ENST00000541714.2	+	8	1409	c.947C>T	c.(946-948)gCt>gTt	p.A316V	TJP3_ENST00000587686.1_Missense_Mutation_p.A335V|TJP3_ENST00000539908.2_Missense_Mutation_p.A280V|TJP3_ENST00000382008.3_Missense_Mutation_p.A330V|TJP3_ENST00000589378.1_Missense_Mutation_p.A325V|TJP3_ENST00000262968.9_Missense_Mutation_p.A349V	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	330						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGGCATGCTCAGCGGAGC	0.637000													13	61					0	0	0.500413	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882644	144882644	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:144882644C>G	ENST00000369359.4	-	27	3824	c.3786G>C	c.(3784-3786)ctG>ctC	p.L1262L	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Silent_p.L1262L|PDE4DIP_ENST00000369354.3_Silent_p.L1125L|PDE4DIP_ENST00000369356.4_Silent_p.L1125L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1125					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTGCTACTCAGCACAAGTT	0.463000			T	PDGFRB	MPD								27	372					0	0	0.693898	0	0
DUSP10	11221	broad.mit.edu	37	1	221912637	221912637	+	Missense_Mutation	SNP	G	G	C	rs35391196		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:221912637G>C	ENST00000366899.3	-	2	688	c.450C>G	c.(448-450)atC>atG	p.I150M	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	150					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CATTGGGGTAGATTATTTTGA	0.512000													5	123					0	0	0.184627	0	0
LATS2	26524	broad.mit.edu	37	13	21565498	21565498	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:21565498C>T	ENST00000382592.4	-	3	793	c.388G>A	c.(388-390)Gag>Aag	p.E130K	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Missense_Mutation_p.E130K	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	130	UBA.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AGGGCGGCCTCGATGCTCCTG	0.577000													15	65					0	0	0.457914	0	0
IMPG2	50939	broad.mit.edu	37	3	100976587	100976587	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:100976587G>T	ENST00000193391.7	-	10	1126	c.939C>A	c.(937-939)ttC>ttA	p.F313L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	313	SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCTCACCATTGAAGGTAACTG	0.468000													24	181					2.65835e-16	2.81606e-16	0.717897	1	0
MTMR4	9110	broad.mit.edu	37	17	56572322	56572322	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:56572322C>G	ENST00000323456.5	-	16	3305	c.3181G>C	c.(3181-3183)Gag>Cag	p.E1061Q	MTMR4_ENST00000579925.1_Missense_Mutation_p.E1004Q	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1061						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGGGGGGCTCTGCTGGAGGG	0.512000													18	69					0	0	0.520397	0	0
DNAH3	55567	broad.mit.edu	37	16	20944735	20944735	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:20944735G>A	ENST00000261383.3	-	62	12091	c.12092C>T	c.(12091-12093)aCg>aTg	p.T4031M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4031					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATCTGCATCGTTTTCCTGTC	0.507000													52	133					0	0	0.870114	0	0
B3GALT4	8705	broad.mit.edu	37	6	33245746	33245746	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33245746G>C	ENST00000451237.1	+	1	830	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	184					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CAACGTCCCTGAACTGGTATC	0.587000													93	82					0	0	0.870114	0	0
PARP14	54625	broad.mit.edu	37	3	122447299	122447299	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:122447299C>T	ENST00000474629.2	+	17	5527	c.5261C>T	c.(5260-5262)tCa>tTa	p.S1754L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1754	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGAAATCATTCATTAATTGTG	0.388000													51	200					0	0	0.870114	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450043	85450043	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:85450043G>C	ENST00000393217.2	+	8	1533	c.1472G>C	c.(1471-1473)cGa>cCa	p.R491P		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	491										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCAAAAAAACGATGTTCAGAA	0.289000													16	62					0	0	0.479597	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054307	21054307	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:21054307T>G	ENST00000381545.3	+	15	1990	c.1771T>G	c.(1771-1773)Ttt>Gtt	p.F591V	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F591V|LST3_ENST00000540229.1_Missense_Mutation_p.F591V|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F591V	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	591					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCCAATATATTTTGGGGCTCT	0.378000													71	169					0	0	0.870114	0	0
DNAH7	56171	broad.mit.edu	37	2	196661353	196661353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:196661353G>A	ENST00000312428.6	-	56	10562	c.10462C>T	c.(10462-10464)Cag>Tag	p.Q3488*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3488	AAA 6 (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						TGACAATTCTGAAGAACAACC	0.418000													20	71					0	0	0.557998	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124521	26124521	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:26124521C>T	ENST00000602637.1	+	1	91	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.R21C			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	21					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CCGCTCTTCTCGCGCTGGTCT	0.612000													29	20					0	0	0.740014	0	0
CNTN5	53942	broad.mit.edu	37	11	99786823	99786823	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:99786823C>T	ENST00000524871.1	+	7	905	c.615C>T	c.(613-615)gtC>gtT	p.V205V	CNTN5_ENST00000527185.1_Silent_p.V205V|CNTN5_ENST00000418526.2_Silent_p.V131V|CNTN5_ENST00000279463.3_Silent_p.V205V|CNTN5_ENST00000528682.1_Silent_p.V205V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	205	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAAGTGCAGTCTCTGTGAGGG	0.453000													10	25					0	0	0.361761	0	0
PDHA2	5161	broad.mit.edu	37	4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTTGAGGCCGGCATAAACCCC	0.517000													5	194					0	0	0.184627	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604130	140604130	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140604130G>A	ENST00000239449.4	+	1	1053	c.1053G>A	c.(1051-1053)tcG>tcA	p.S351S	PCDHB14_ENST00000515856.2_Silent_p.S198S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		351					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S351S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATATCGTCGATTACAAAGA	0.428000													37	82					0	0	0.812448	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77216299	77216299	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:77216299G>A	ENST00000426126.2	+	8	1534	c.885G>A	c.(883-885)ctG>ctA	p.L295L	ZDHHC17_ENST00000334822.5_Silent_p.L295L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	295					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTAGAAAGCTGAAAGCTGATA	0.398000													7	21					0	0	0.248553	0	0
KIAA1109	84162	broad.mit.edu	37	4	123167863	123167863	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:123167863C>T	ENST00000264501.4	+	34	5583	c.5210C>T	c.(5209-5211)tCa>tTa	p.S1737L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1737L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1737L			Q2LD37	K1109_HUMAN	KIAA1109	1737					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTACAAGCCTCAGTGGAAGAA	0.378000													30	124					0	0	0.750413	0	0
TTN	7273	broad.mit.edu	37	2	179463706	179463706	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179463706C>T	ENST00000589042.1	-	291	56955	c.56731G>A	c.(56731-56733)Gat>Aat	p.D18911N	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9846N|TTN_ENST00000591111.1_Missense_Mutation_p.D17270N|TTN_ENST00000342175.6_Missense_Mutation_p.D10038N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D16343N|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9971N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17270	Ig-like 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D9971N(1)|p.D16343N(1)|p.D10038N(1)|p.D16341N(1)|p.D9846N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCCTCCATCATATTCTGGC	0.463000													12	32					0	0	0.500413	0	0
DZIP3	9666	broad.mit.edu	37	3	108326985	108326985	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108326985G>C	ENST00000361582.3	+	3	312	c.82G>C	c.(82-84)Gaa>Caa	p.E28Q	DZIP3_ENST00000463306.1_Missense_Mutation_p.E28Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	28					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAATAAGCTAGAAAAATCATC	0.313000													39	154					0	0	0.847076	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722380	16722380	+	RNA	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:16722380G>A	ENST00000417510.1	-	0	1350																											AGCTGGGCCAGCTGCTCCTCC	0.592000													27	135					0	0	0.681144	0	0
PGM5	5239	broad.mit.edu	37	9	71094415	71094415	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:71094415T>C	ENST00000396396.1	+	8	1470	c.1241T>C	c.(1240-1242)gTg>gCg	p.V414A		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	414					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AAGCAGAGTGTGGAGGAAATT	0.522000													44	115					0	0	0.834066	0	0
MAPK9	5601	broad.mit.edu	37	5	179696288	179696288	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:179696288G>A	ENST00000452135.2	-	3	542	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	MAPK9_ENST00000539014.1_Missense_Mutation_p.H82Y|MAPK9_ENST00000425491.2_Missense_Mutation_p.H82Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.H82Y|MAPK9_ENST00000393360.3_Missense_Mutation_p.H82Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.H82Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.H82Y|MAPK9_ENST00000397072.3_3'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	82	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACATTTTTATGATTGACACAT	0.363000													6	124					0	0	0.248553	0	0
BAZ2B	29994	broad.mit.edu	37	2	160295712	160295712	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:160295712C>G	ENST00000392783.2	-	7	1203	c.708G>C	c.(706-708)aaG>aaC	p.K236N	BAZ2B_ENST00000343439.5_Missense_Mutation_p.K234N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.K236N|BAZ2B_ENST00000392782.1_Missense_Mutation_p.K234N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	236	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCATTGCTTTCTTCCTTGGTT	0.363000													71	162					0	0	0.870114	0	0
CDON	50937	broad.mit.edu	37	11	125830980	125830980	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:125830980C>A	ENST00000392693.3	-	20	3848	c.3721G>T	c.(3721-3723)Gaa>Taa	p.E1241*	CDON_ENST00000263577.7_Nonsense_Mutation_p.E1218*|CDON_ENST00000531738.1_Nonsense_Mutation_p.E595*	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1241					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATCTCTGTTTCTGAATGGGCA	0.443000													18	49					2.94398e-08	3.04789e-08	0.557998	1	0
L3MBTL3	84456	broad.mit.edu	37	6	130425591	130425591	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:130425591C>G	ENST00000529410.1	+	21	2236	c.1757C>G	c.(1756-1758)tCa>tGa	p.S586*	L3MBTL3_ENST00000368139.2_Nonsense_Mutation_p.S561*|L3MBTL3_ENST00000368136.2_Nonsense_Mutation_p.S586*|L3MBTL3_ENST00000526019.1_Nonsense_Mutation_p.S561*|L3MBTL3_ENST00000533560.1_Nonsense_Mutation_p.S561*|L3MBTL3_ENST00000361794.2_Nonsense_Mutation_p.S586*			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	586					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGTCCCTATTCAGAAATCAAT	0.368000													78	158					0	0	0.870114	0	0
MST1R	4486	broad.mit.edu	37	3	49927430	49927430	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49927430C>G	ENST00000296474.3	-	19	3901	c.3874G>C	c.(3874-3876)Gac>Cac	p.D1292H	MST1R_ENST00000344206.4_Missense_Mutation_p.D1243H	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1292	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCAAAAGGGTCAATGTGGCGG	0.597000													3	91					0	0	0.115264	0	0
BRWD1	54014	broad.mit.edu	37	21	40574319	40574319	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:40574319G>C	ENST00000342449.3	-	38	4595	c.4517C>G	c.(4516-4518)tCa>tGa	p.S1506*	BRWD1_ENST00000380800.3_Nonsense_Mutation_p.S1506*|BRWD1_ENST00000333229.2_Nonsense_Mutation_p.S1506*	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGCTGAATCTGAAGAGTCACC	0.403000													31	85					0	0	0.769981	0	0
SEMA5A	9037	broad.mit.edu	37	5	9044561	9044561	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:9044561G>T	ENST00000382496.5	-	22	3694	c.3029C>A	c.(3028-3030)tCa>tAa	p.S1010*	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1010					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGGGGCAGGTGAGACGGGGTG	0.527000													68	228					4.60868e-44	5.00255e-44	0.870114	1	0
PRKAB1	5564	broad.mit.edu	37	12	120111803	120111803	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:120111803G>C	ENST00000229328.5	+	3	850	c.358G>C	c.(358-360)Gaa>Caa	p.E120Q	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Missense_Mutation_p.E120Q	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	120					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	GGATCTGCCGGAAGGAGAGCA	0.567000													27	139					0	0	0.750413	0	0
OTOGL	283310	broad.mit.edu	37	12	80717543	80717543	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:80717543G>C	ENST00000458043.2	+	34	4101	c.4095G>C	c.(4093-4095)tgG>tgC	p.W1365C	OTOGL_ENST00000547103.1_Missense_Mutation_p.W1365C	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGTGTGAATGGAGATATGAAC	0.368000													21	65					0	0	0.592651	0	0
KIF6	221458	broad.mit.edu	37	6	39554121	39554121	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:39554121C>G	ENST00000287152.7	-	8	1000	c.906G>C	c.(904-906)atG>atC	p.M302I	KIF6_ENST00000373215.3_Missense_Mutation_p.M302I|KIF6_ENST00000373213.4_Missense_Mutation_p.M141I|KIF6_ENST00000538893.1_Missense_Mutation_p.M302I|KIF6_ENST00000373216.3_Missense_Mutation_p.M302I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	302					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGACACTGGTCATCATGGAGT	0.413000													4	194					0	0	0.150653	0	0
OLAH	55301	broad.mit.edu	37	10	15115168	15115168	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:15115168G>A	ENST00000378217.3	+	9	1084	c.897G>A	c.(895-897)gaG>gaA	p.E299E	OLAH_ENST00000485251.1_3'UTR|OLAH_ENST00000378228.3_Silent_p.E246E	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	246					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTGCGAACGAGAAATTAATCA	0.328000													33	61					0	0	0.769981	0	0
TBCD	6904	broad.mit.edu	37	17	80885853	80885853	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:80885853C>G	ENST00000355528.4	+	30	2812	c.2682C>G	c.(2680-2682)atC>atG	p.I894M	TBCD_ENST00000539345.2_Missense_Mutation_p.I894M	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	894					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTGAGCTGATCGAGGCCCATA	0.642000													19	50					0	0	0.575678	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131448	150131448	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:150131448G>A	ENST00000369124.4	+	6	1238	c.960G>A	c.(958-960)caG>caA	p.Q320Q	PLEKHO1_ENST00000025469.6_Silent_p.Q286Q|PLEKHO1_ENST00000369126.1_Silent_p.Q137Q	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	320	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGACTCAGGAGCTTCTGG	0.647000													4	117					0	0	0.150653	0	0
ITGAM	3684	broad.mit.edu	37	16	31342510	31342510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:31342510G>T	ENST00000544665.3	+	29	3375	c.3304G>T	c.(3304-3306)Gag>Tag	p.E1102*	ITGAM_ENST00000287497.8_Nonsense_Mutation_p.E1101*	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1101					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GGAGCCGTTCGAGGTCCCCAA	0.667000													13	34					1.05317e-09	1.09679e-09	0.457914	1	0
HYDIN	54768	broad.mit.edu	37	16	71054110	71054110	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:71054110C>T	ENST00000393567.2	-	22	3447	c.3297G>A	c.(3295-3297)gaG>gaA	p.E1099E	HYDIN_ENST00000448089.2_Silent_p.E1051E	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1099										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTATCAGTCTCACATATAA	0.502000													9	25					0	0	0.387290	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669410	234669410	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:234669410C>T	ENST00000360418.3	+	1	477	c.477C>T	c.(475-477)atC>atT	p.I159I	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000305208.5_Silent_p.I159I|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron			P22309	UD11_HUMAN		159					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCAGCCCCATCGTGGCCCAGT	0.557000													75	156					0	0	0.870114	0	0
GNB4	59345	broad.mit.edu	37	3	179123134	179123134	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:179123134C>G	ENST00000232564.3	-	9	1046	c.760G>C	c.(760-762)Gac>Cac	p.D254H	GNB4_ENST00000468623.1_Missense_Mutation_p.D254H	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	254					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GCACGAAGGTCAAAGAGCCGG	0.418000													47	106					0	0	0.864702	0	0
COL10A1	1300	broad.mit.edu	37	6	116442593	116442593	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:116442593C>G	ENST00000327673.4	-	2	1093	c.686G>C	c.(685-687)gGa>gCa	p.G229A	COL10A1_ENST00000243222.4_Missense_Mutation_p.G229A|NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	229	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GCCTGGCTGTCCTGGAACCCC	0.607000													24	111					0	0	0.654019	0	0
SZT2	23334	broad.mit.edu	37	1	43908875	43908875	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:43908875G>A	ENST00000562955.1	+	59	8265	c.8265G>A	c.(8263-8265)atG>atA	p.M2755I	SZT2_ENST00000372442.1_Missense_Mutation_p.M1913I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2812						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGCGCCAGATGAAGATGGAAA	0.552000													27	88					0	0	0.667858	0	0
CAPN10	11132	broad.mit.edu	37	2	241534074	241534074	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:241534074C>G	ENST00000391984.2	+	6	1141	c.945C>G	c.(943-945)ctC>ctG	p.L315L	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.L315L|CAPN10_ENST00000391982.2_Silent_p.L315L|CAPN10_ENST00000354082.4_Silent_p.L315L|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	315	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TTGACGAGCTCACCGTTGGCT	0.642000													20	115					0	0	0.575678	0	0
GDPD3	79153	broad.mit.edu	37	16	30123849	30123849	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:30123849G>C	ENST00000406256.3	-	4	736	c.359C>G	c.(358-360)tCt>tGt	p.S120C		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	120	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CTCACCTGGAGAGAAGTAAAC	0.612000											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	87					0	0	0.750413	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	113000008	113000008	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:113000008G>C	ENST00000271277.6	+	6	2119	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	CTTNBP2NL_ENST00000607039.1_Intron|RP4-671G15.3_ENST00000508462.1_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	632						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAGGATGTTGAGTTACTTTT	0.478000													47	61					0	0	0.870114	0	0
FAM151A	338094	broad.mit.edu	37	1	55089033	55089033	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:55089033G>C	ENST00000302250.2	-	1	196	c.36C>G	c.(34-36)gtC>gtG	p.V12V	FAM151A_ENST00000371304.2_Silent_p.V12V|ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	12						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ACACCCACTTGACCTGATTCT	0.612000													53	233					0	0	0.870114	0	0
THBS4	7060	broad.mit.edu	37	5	79366996	79366996	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:79366996T>A	ENST00000350881.2	+	13	1903	c.1713T>A	c.(1711-1713)gaT>gaA	p.D571E	THBS4_ENST00000511733.1_Missense_Mutation_p.D480E|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	571					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ATGACATGGATGGAGATGGTA	0.423000													62	223					0	0	0.870114	0	0
OGT	8473	broad.mit.edu	37	X	70776821	70776821	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:70776821G>A	ENST00000373719.3	+	10	1403	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	OGT_ENST00000373701.3_Missense_Mutation_p.D386N	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	396					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TACCTTTGCTGATGCCTACTC	0.393000													35	24					0	0	0.834066	0	0
MYBPC1	4604	broad.mit.edu	37	12	102036216	102036216	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:102036216G>A	ENST00000549145.1	+	10	749	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	MYBPC1_ENST00000541119.1_Missense_Mutation_p.E192K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E204K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E204K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E185K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E178K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E190K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E105K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E204K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E204K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E204K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E229K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E204K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E191K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E229K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	204				A -> T (in Ref. 1; CAA46987).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GCAGCAGGAGGAAGAACCCCA	0.532000													9	29					0	0	0.361761	0	0
UCKL1	54963	broad.mit.edu	37	20	62587639	62587639	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:62587639C>G	ENST00000358711.3	-	1	130	c.87G>C	c.(85-87)gaG>gaC	p.E29D	UCKL1_ENST00000354216.6_Missense_Mutation_p.E29D|UCKL1_ENST00000369892.3_Missense_Mutation_p.E29D			Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	29					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCTCGCTTTTCTCAGCCTGCC	0.741000													4	17					0	0	0.150653	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382452	101382452	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:101382452C>T	ENST00000372780.1	+	3	869	c.650C>T	c.(649-651)cCa>cTa	p.P217L	TCEAL2_ENST00000329035.2_Missense_Mutation_p.P217L	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TGCAGGGCCCCACGAAGGGAC	0.473000													46	73					0	0	0.870114	0	0
KIF14	9928	broad.mit.edu	37	1	200534687	200534687	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:200534687C>G	ENST00000367350.4	-	24	4210	c.3772G>C	c.(3772-3774)Gat>Cat	p.D1258H		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1258	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTTTCTTCATCATAACTCTGT	0.333000													6	116					0	0	0.217242	0	0
TCP10	6953	broad.mit.edu	37	6	167787923	167787923	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:167787923G>C	ENST00000366827.2	-	7	916	c.705C>G	c.(703-705)gtC>gtG	p.V235V	TCP10_ENST00000397829.4_Silent_p.V235V			Q12799	TCP10_HUMAN	t-complex 10	262						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AACTCCCTAAGACTGATGAGC	0.463000													3	44					0	0	0.307466	0	0
CD300LB	124599	broad.mit.edu	37	17	72522048	72522048	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:72522048C>G	ENST00000392621.1	-	2	324	c.320G>C	c.(319-321)gGa>gCa	p.G107A	CD300LB_ENST00000314401.3_Missense_Mutation_p.G107A	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	70	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						ACTCTTCTCTCCTTGCTCCGA	0.532000													82	238					0	0	0.870114	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930805	133930805	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:133930805C>G	ENST00000298622.4	+	2	498	c.360C>G	c.(358-360)ctC>ctG	p.L120L		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGCACTGCTCAGTGCCCTGC	0.612000													24	29					0	0	0.750413	0	0
TRPM2	7226	broad.mit.edu	37	21	45838391	45838391	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45838391C>T	ENST00000397928.1	+	22	3859	c.3414C>T	c.(3412-3414)ttC>ttT	p.F1138F	TRPM2_ENST00000300482.5_Silent_p.F1138F|TRPM2_ENST00000397932.2_Silent_p.F1138F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.F1118F	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1138						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACCGACAGTTCCAGCAAAAGC	0.612000													37	140					0	0	0.819951	0	0
NNT	23530	broad.mit.edu	37	5	43659377	43659377	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:43659377C>T	ENST00000264663.5	+	17	2780	c.2559C>T	c.(2557-2559)ctC>ctT	p.L853L	NNT_ENST00000344920.4_Silent_p.L853L|NNT_ENST00000512996.2_Silent_p.L722L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	853					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCTTCCTGCTCAACAACAATC	0.512000													34	113					0	0	0.779181	0	0
HAND2	9464	broad.mit.edu	37	4	174449901	174449901	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:174449901C>T	ENST00000359562.4	-	1	1479	c.540G>A	c.(538-540)aaG>aaA	p.K180K	HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	180					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCTTCTTCCTCTTCTCCTCTT	0.602000													6	28					0	0	0.217242	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27665754	27665754	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:27665754C>T	ENST00000543753.1	+	3	306	c.259C>T	c.(259-261)Ctt>Ttt	p.L87F	KRTCAP3_ENST00000407293.1_Missense_Mutation_p.L69F|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.L87F	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	87						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CAGGAACCTTCTTCGCCCTCC	0.592000													32	47					0	0	0.812448	0	0
GPAT2	150763	broad.mit.edu	37	2	96690536	96690536	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:96690536G>T	ENST00000434632.1	-	15	1872	c.1413C>A	c.(1411-1413)ctC>ctA	p.L471L	GPAT2_ENST00000453542.1_Silent_p.L400L|GPAT2_ENST00000359548.4_Silent_p.L471L|GPAT2_ENST00000377137.3_Silent_p.L471L			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	471					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GATGCTTGAAGAGCAGCAGCG	0.657000													81	246					5.01443e-46	5.44777e-46	0.870114	1	0
HEATR1	55127	broad.mit.edu	37	1	236719107	236719107	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:236719107C>T	ENST00000366582.3	-	39	5761	c.5647G>A	c.(5647-5649)Gag>Aag	p.E1883K	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1802K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1883					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GAGCTTACCTCAGAGTGCTGG	0.493000													11	217					0	0	0.435327	0	0
WARS2	10352	broad.mit.edu	37	1	119619152	119619152	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:119619152C>G	ENST00000369426.5	-	2	172	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	WARS2_ENST00000537870.1_5'UTR|WARS2_ENST00000235521.4_Missense_Mutation_p.E57Q			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	57					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ACCCAGCTCTCAATGGCTCCC	0.483000													64	145					0	0	0.870114	0	0
RHNO1	83695	broad.mit.edu	37	12	2997289	2997289	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:2997289C>G	ENST00000489288.2	+	3	533	c.381C>G	c.(379-381)ccC>ccG	p.P127P	RHNO1_ENST00000464682.2_3'UTR|RHNO1_ENST00000461997.2_Silent_p.P113P	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1			RAD9-HUS1-RAD1 interacting nuclear orphan 1																		CCAGAAGACCCTTAGTTCCAG	0.488000													29	104					0	0	0.717897	0	0
PRDM11	56981	broad.mit.edu	37	11	45241142	45241142	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:45241142G>C	ENST00000263765.4	+	7	927	c.678G>C	c.(676-678)gaG>gaC	p.E226D	PRDM11_ENST00000424263.2_Missense_Mutation_p.E192D|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000530656.1_Missense_Mutation_p.E226D			Q9NQV5	PRD11_HUMAN	PR domain containing 11	226	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCTCCCGGGAGGAGAGGGAGC	0.662000													20	45					0	0	0.608945	0	0
SRBD1	55133	broad.mit.edu	37	2	45807146	45807146	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:45807146G>C	ENST00000263736.4	-	7	1002	c.940C>G	c.(940-942)Cca>Gca	p.P314A		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	314					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTTTTATATGGAGCAGACTAG	0.398000													4	196					0	0	0.150653	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243504340	243504340	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:243504340G>A	ENST00000366541.3	+	11	1339		c.e11-1		SDCCAG8_ENST00000355875.4_Splice_Site|SDCCAG8_ENST00000343783.6_Splice_Site	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8						establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTCCCTTACAGATGTTGATCT	0.358000													9	101					0	0	0.335167	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618627	89618627	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:89618627C>G	ENST00000323061.5	-	1	759	c.279G>C	c.(277-279)aaG>aaC	p.K93N	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	93					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TGGCTTCTATCTTATCGCATC	0.458000													68	138					0	0	0.870114	0	0
ITGA2	3673	broad.mit.edu	37	5	52367846	52367846	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:52367846G>A	ENST00000296585.5	+	18	2457	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	772					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CCCTGCCCTTGAAGCCTATTC	0.468000													18	49					0	0	0.557998	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267305	103267305	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:103267305G>A	ENST00000217926.5	-	2	533	c.507C>T	c.(505-507)gcC>gcT	p.A169A		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	169					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						gttgctgtatggcatacagtg	0.398000													23	85					0	0	0.681144	0	0
OSBP2	23762	broad.mit.edu	37	22	31091253	31091253	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:31091253C>T	ENST00000332585.6	+	1	461	c.357C>T	c.(355-357)ttC>ttT	p.F119F	OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000382310.3_Silent_p.F119F|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Silent_p.F119F	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	119					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CTGGGCCCTTCACTAAGGCCG	0.682000													22	55					0	0	0.624587	0	0
HTR2A	3356	broad.mit.edu	37	13	47409577	47409577	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:47409577C>G	ENST00000378688.4	-	3	942	c.811G>C	c.(811-813)Gat>Cat	p.D271H	HTR2A_ENST00000542664.1_Missense_Mutation_p.D271H|HTR2A_ENST00000543956.1_Missense_Mutation_p.D187H			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	271					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTGCCAAGATCACTTACACAC	0.453000													26	66					0	0	0.693898	0	0
MGAM	8972	broad.mit.edu	37	7	141752582	141752582	+	Splice_Site	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:141752582A>G	ENST00000475668.2	+	26	3012		c.e26-1		MGAM_ENST00000549489.2_Splice_Site			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTACTTTTCAGGCATCCAAT	0.398000													3	173					0	0	0.150653	0	0
ITPR3	3710	broad.mit.edu	37	6	33662853	33662853	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33662853C>G	ENST00000374316.5	+	58	8998	c.7938C>G	c.(7936-7938)ctC>ctG	p.L2646L	ITPR3_ENST00000605930.1_Silent_p.L2646L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2646					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCAACGAGCTCAAGGAGCAGG	0.612000													19	31					0	0	0.608945	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287679	29287679	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:29287679C>G	ENST00000266943.6	-	3	567	c.198G>C	c.(196-198)caG>caC	p.Q66H	SLC46A3_ENST00000380814.4_Missense_Mutation_p.Q66H	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	66					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ACACTTTTTTCTGAACTTCCT	0.353000													14	35					0	0	0.435327	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481673	140481673	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140481673A>G	ENST00000231130.2	+	1	1440	c.1440A>G	c.(1438-1440)tcA>tcG	p.S480S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		480	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGACTCAGGCACCAACG	0.647000													44	128					0	0	0.870114	0	0
NCOA1	8648	broad.mit.edu	37	2	24985573	24985573	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:24985573G>A	ENST00000405141.1	+	23	4794	c.4083G>A	c.(4081-4083)ctG>ctA	p.L1361L	NCOA1_ENST00000395856.3_Silent_p.L1361L|NCOA1_ENST00000288599.5_Silent_p.L1361L|NCOA1_ENST00000407230.1_Silent_p.L1210L|NCOA1_ENST00000538539.1_Silent_p.L1361L|NCOA1_ENST00000406961.1_Silent_p.L1361L|NCOA1_ENST00000348332.3_Silent_p.L1361L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1361									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCGCACTGAGACACACAG	0.398000			T	PAX3	alveolar rhadomyosarcoma								19	358					0	0	0.592651	0	0
SYNE1	23345	broad.mit.edu	37	6	152686096	152686096	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:152686096C>G	ENST00000367255.5	-	63	10632	c.10031G>C	c.(10030-10032)gGa>gCa	p.G3344A	SYNE1_ENST00000448038.1_Missense_Mutation_p.G3351A|SYNE1_ENST00000423061.1_Missense_Mutation_p.G3351A|SYNE1_ENST00000265368.4_Missense_Mutation_p.G3344A|SYNE1_ENST00000341594.5_Missense_Mutation_p.G3383A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3344					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)		GACAGATTCTCCCCTGGTCAC	0.428000										HNSCC(10;0.0054)			36	110					0	0	0.779181	0	0
KDM2A	22992	broad.mit.edu	37	11	66985207	66985207	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:66985207C>T	ENST00000529006.2	+	9	1139	c.693C>T	c.(691-693)ttC>ttT	p.F231F	KDM2A_ENST00000526258.1_Intron|KDM2A_ENST00000398645.2_Silent_p.F231F	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	231	JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CACAGGTCTTCTGGCTCATCC	0.483000													7	33					0	0	0.307466	0	0
DNAH9	1770	broad.mit.edu	37	17	11631206	11631206	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:11631206C>T	ENST00000262442.3	+	28	5849	c.5781C>T	c.(5779-5781)atC>atT	p.I1927I	DNAH9_ENST00000454412.2_Silent_p.I1927I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1927	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAATCGAATCTCCGTGGAGG	0.478000													23	69					0	0	0.624587	0	0
OR10A5	144124	broad.mit.edu	37	11	6867662	6867662	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6867662C>G	ENST00000299454.4	+	1	780	c.749C>G	c.(748-750)tCt>tGt	p.S250C	OR10A5_ENST00000379831.2_Missense_Mutation_p.S254C			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTGTTGTCTCTCTTTTCTAT	0.423000													102	310					0	0	0.870114	0	0
MYO7B	4648	broad.mit.edu	37	2	128366312	128366312	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:128366312G>A	ENST00000389524.4	+	22	2726	c.2673G>A	c.(2671-2673)caG>caA	p.Q891Q	MYO7B_ENST00000409816.2_Silent_p.Q891Q|MYO7B_ENST00000428314.1_Silent_p.Q891Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	891						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCGAGGGGCAGAAAAGCCAAG	0.657000													6	35					0	0	0.248553	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999220	27999220	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:27999220C>G	ENST00000441525.1	-	1	346	c.232G>C	c.(232-234)Gac>Cac	p.D78H		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	78	Glu-rich.									NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGTTCGACGTCTTCACTTGAA	0.488000													46	62					0	0	0.864702	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909868	909868	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:909868C>T	ENST00000379409.2	+	15	1935	c.1905C>T	c.(1903-1905)ctC>ctT	p.L635L	PLEKHN1_ENST00000379407.2_Silent_p.L548L|PLEKHN1_ENST00000379410.3_Silent_p.L583L			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	635										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGACCACCTCTGGGACGAGA	0.647000													12	50					0	0	0.387290	0	0
ZNF746	155061	broad.mit.edu	37	7	149171704	149171704	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:149171704G>A	ENST00000340622.3	-	7	1986	c.1706C>T	c.(1705-1707)aCc>aTc	p.T569I	ZNF746_ENST00000458143.2_Missense_Mutation_p.T570I			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	569					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCCGCAGACGGTGCAGGTGAA	0.672000													5	20					0	0	0.217242	0	0
C1orf94	84970	broad.mit.edu	37	1	34667794	34667794	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:34667794C>G	ENST00000488417.1	+	4	1500	c.1380C>G	c.(1378-1380)ctC>ctG	p.L460L	C1orf94_ENST00000373374.3_Silent_p.L270L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	270							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACCAGCCACTCTGGCTCAACC	0.522000													19	55					0	0	0.639603	0	0
CYP20A1	57404	broad.mit.edu	37	2	204143351	204143351	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:204143351G>T	ENST00000356079.4	+	7	858	c.735G>T	c.(733-735)agG>agT	p.R245S	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R253S	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	245						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAAAGGAAGGAACTTCAGTC	0.318000													6	41					1.6384e-10	1.7106e-10	0.248553	1	0
GPR98	84059	broad.mit.edu	37	5	89981767	89981767	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:89981767G>C	ENST00000405460.2	+	29	6541	c.6445G>C	c.(6445-6447)Gat>Cat	p.D2149H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2149					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCATTTGCAGATGTCTCTGT	0.428000													6	29					0	0	0.217242	0	0
TRPA1	8989	broad.mit.edu	37	8	72942205	72942205	+	Splice_Site	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:72942205C>G	ENST00000262209.4	-	24	3076		c.e24-1		RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1							integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCAAACCAATCTGAAGTATGA	0.413000													22	75					0	0	0.624587	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105420410	105420410	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:105420410C>T	ENST00000258494.9	-	22	2769	c.2629G>A	c.(2629-2631)Gga>Aga	p.G877R	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	877	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AAAACAGTTCCTGCTTCCAGT	0.413000													6	288					0	0	0.217242	0	0
SPEG	10290	broad.mit.edu	37	2	220309772	220309772	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:220309772G>C	ENST00000312358.7	+	3	836	c.704G>C	c.(703-705)cGa>cCa	p.R235P	SPEG_ENST00000396698.1_Missense_Mutation_p.R131P|SPEG_ENST00000396695.2_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	235					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGGCATCTCGAGCTAATCTG	0.701000													4	8					0	0	0.217242	0	0
SORBS2	8470	broad.mit.edu	37	4	186556511	186556511	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:186556511C>T	ENST00000448662.2	-	11	1132	c.946G>A	c.(946-948)Gag>Aag	p.E316K	SORBS2_ENST00000319471.9_Missense_Mutation_p.E386K|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000284776.7_Intron|SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000393528.3_Missense_Mutation_p.E321K|SORBS2_ENST00000437304.2_Missense_Mutation_p.E479K|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000418609.1_Intron|SORBS2_ENST00000498125.1_5'UTR	NM_001145672.1	NP_001139144.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	228						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)		GTTTTTACCTCATTGAAAACA	0.418000													14	38					0	0	0.435327	0	0
SRRM1	10250	broad.mit.edu	37	1	24995948	24995948	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:24995948C>G	ENST00000323848.9	+	14	2389	c.2074C>G	c.(2074-2076)Cag>Gag	p.Q692E	SRRM1_ENST00000447431.2_Missense_Mutation_p.Q704E|SRRM1_ENST00000374389.4_Missense_Mutation_p.Q701E|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	692	Arg-rich.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCGAGCTCCTCAGACCTCCTC	0.592000													11	34					0	0	0.361761	0	0
PRPF8	10594	broad.mit.edu	37	17	1586884	1586884	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:1586884C>T	ENST00000572621.1	-	2	477	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.R71Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	71						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCCATGGTCTCGAATGATCTT	0.473000													59	160					0	0	0.870114	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807940	50807940	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:50807940G>C	ENST00000263046.4	+	7	1205	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	TFAP2B_ENST00000393655.3_Missense_Mutation_p.E338Q			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	338					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCGTCTCTGAGTATTTGAA	0.478000													98	174					0	0	0.870114	0	0
RNF17	56163	broad.mit.edu	37	13	25448363	25448363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:25448363C>A	ENST00000255324.5	+	33	4611	c.4559C>A	c.(4558-4560)tCa>tAa	p.S1520*	RNF17_ENST00000381921.1_Nonsense_Mutation_p.S1478*|RNF17_ENST00000339524.3_Nonsense_Mutation_p.S530*	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1520	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GATTATGGATCAACTGCAAAG	0.294000													18	86					3.52763e-06	3.63078e-06	0.520397	1	0
SUN1	23353	broad.mit.edu	37	7	912962	912962	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:912962C>G	ENST00000456758.2	+	25	2919	c.2919C>G	c.(2917-2919)gtC>gtG	p.V973V	SUN1_ENST00000413514.2_Silent_p.V582V|SUN1_ENST00000389574.3_Silent_p.V701V|SUN1_ENST00000425407.2_Silent_p.V701V|SUN1_ENST00000401592.1_Silent_p.V784V|SUN1_ENST00000405266.1_Silent_p.V821V|SUN1_ENST00000452783.2_Silent_p.V681V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	811					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCGAACCTGTCAAGTGAAGAC	0.428000											OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	158					0	0	0.870114	0	0
HELZ	9931	broad.mit.edu	37	17	65156472	65156472	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:65156472G>A	ENST00000358691.5	-	17	2248	c.2082C>T	c.(2080-2082)ctC>ctT	p.L694L	HELZ_ENST00000580168.1_Silent_p.L695L	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGGTGCAAATGAGAATCCTGC	0.358000													30	87					0	0	0.729181	0	0
LRBA	987	broad.mit.edu	37	4	151186875	151186875	+	Nonstop_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:151186875C>A	ENST00000535741.1	-	57	9031	c.8558G>T	c.(8557-8559)tGa>tTa	p.*2853L	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Nonstop_Mutation_p.*2864L|LRBA_ENST00000510413.1_Nonstop_Mutation_p.*2852L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGTCACCATCAGTAGCGGGT	0.448000													13	25					4.3838e-07	4.52332e-07	0.435327	1	0
FAM115A	9747	broad.mit.edu	37	7	143573509	143573509	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:143573509C>T	ENST00000479870.1	-	2	401	c.193G>A	c.(193-195)Gag>Aag	p.E65K	FAM115A_ENST00000355951.2_Missense_Mutation_p.E65K|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	65										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AAGTAGTCCTCATGGGACACG	0.587000													16	58					0	0	0.479597	0	0
FGF5	2250	broad.mit.edu	37	4	81188026	81188026	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:81188026C>T	ENST00000456523.3	+	1	234	c.48C>T	c.(46-48)ctC>ctT	p.L16L	FGF5_ENST00000312465.7_Silent_p.L16L	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	16					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						ACCTGATCCTCAGCGCCTGGG	0.612000													26	93					0	0	0.693898	0	0
TP53BP1	7158	broad.mit.edu	37	15	43699588	43699588	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:43699588G>A	ENST00000263801.3	-	28	6164	c.5912C>T	c.(5911-5913)tCt>tTt	p.S1971F	TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1926F|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1974F|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1976F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1971					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTTTAGTGAGAAACATAATC	0.413000								Other conserved DNA damage response genes					39	100					0	0	0.804634	0	0
HMHA1	23526	broad.mit.edu	37	19	1080711	1080711	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:1080711C>A	ENST00000313093.2	+	16	2174	c.1943C>A	c.(1942-1944)tCc>tAc	p.S648Y	HMHA1_ENST00000586866.1_Missense_Mutation_p.S652Y|HMHA1_ENST00000590577.1_Missense_Mutation_p.S283Y|HMHA1_ENST00000590214.1_Missense_Mutation_p.S675Y|HMHA1_ENST00000543365.1_Missense_Mutation_p.S531Y|HMHA1_ENST00000539243.2_Missense_Mutation_p.S664Y|HMHA1_ENST00000536472.1_Missense_Mutation_p.S516Y	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	648					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGACGTCATCCAGTGGTACC	0.652000													18	64					8.28177e-16	8.75806e-16	0.557998	1	0
C9	735	broad.mit.edu	37	5	39364534	39364534	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:39364534G>C	ENST00000263408.4	-	1	128	c.33C>G	c.(31-33)atC>atG	p.I11M	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	11					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTAAAATGCAGATTGCAACTG	0.502000													26	116					0	0	0.706142	0	0
GRM4	2914	broad.mit.edu	37	6	33995958	33995958	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33995958C>T	ENST00000374181.3	-	9	2797	c.2628G>A	c.(2626-2628)aaG>aaA	p.K876K	GRM4_ENST00000535756.1_Silent_p.K743K|GRM4_ENST00000544773.1_Silent_p.K707K|GRM4_ENST00000455714.2_Silent_p.K736K|GRM4_ENST00000374177.3_Silent_p.K760K|GRM4_ENST00000545715.1_Silent_p.K568K|GRM4_ENST00000538487.1_Silent_p.K876K	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	876					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGAAGTTGCCCTTCTGCGTGA	0.637000													31	27					0	0	0.779181	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348753	140348753	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140348753C>G	ENST00000289269.5	+	1	2934	c.2402C>G	c.(2401-2403)tCa>tGa	p.S801*	PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		801					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAGGCTCAGGGAGTGAC	0.552000													16	109					0	0	0.520397	0	0
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs76467559	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328000													3	54					0	0	0.150653	0	0
XRN1	54464	broad.mit.edu	37	3	142151555	142151555	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:142151555C>G	ENST00000264951.4	-	2	373	c.256G>C	c.(256-258)Gat>Cat	p.D86H	XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Missense_Mutation_p.D86H|XRN1_ENST00000463916.1_Missense_Mutation_p.D86H	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	86					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GCCACACCATCTACAGCCATA	0.348000													25	47					0	0	0.667858	0	0
RPL10L	140801	broad.mit.edu	37	14	47120418	47120418	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:47120418C>T	ENST00000298283.3	-	1	610	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	174					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATTAAACTTCGTGAAGCCCC	0.507000													106	77					0	0	0.870114	0	0
RNF6	6049	broad.mit.edu	37	13	26793630	26793630	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:26793630G>C	ENST00000381588.4	-	3	909	c.157C>G	c.(157-159)Cgg>Ggg	p.R53G	RNF6_ENST00000381570.3_Missense_Mutation_p.R53G|RNF6_ENST00000399762.2_De_novo_Start_InFrame|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.R53G	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	53					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTCATAAGCCGATAATCTTCA	0.383000													4	141					0	0	0.150653	0	0
DLX4	1748	broad.mit.edu	37	17	48050615	48050615	+	Silent	SNP	C	C	T	rs150742579	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48050615C>T	ENST00000240306.3	+	2	757	c.462C>T	c.(460-462)ctC>ctT	p.L154L	DLX4_ENST00000411890.2_Silent_p.L82L	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	154					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CAGCGCAGCTCGGCCTCACCC	0.642000													16	33					0	0	0.539581	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637048	23637048	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:23637048G>C	ENST00000478691.1	-	10	1778	c.1507C>G	c.(1507-1509)Cag>Gag	p.Q503E	HNRNPR_ENST00000302271.6_Missense_Mutation_p.Q601E|HNRNPR_ENST00000374612.1_Missense_Mutation_p.Q601E|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374616.3_Missense_Mutation_p.Q604E|HNRNPR_ENST00000427764.2_Missense_Mutation_p.Q563E|HNRNPR_ENST00000426846.2_Missense_Mutation_p.Q441E|HNRNPR_ENST00000606561.1_Missense_Mutation_p.Q462E	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	601	RNA-binding RGG-box.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AGCGGCTGCTGAGCGATGGGT	0.478000													71	247					0	0	0.870114	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481696	27481696	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:27481696C>G	ENST00000233535.4	-	2	554	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	SLC30A3_ENST00000447008.2_Missense_Mutation_p.E63Q	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	68					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGCCTCTCAGGGGTAAGG	0.622000													16	45					0	0	0.520397	0	0
SPDL1	54908	broad.mit.edu	37	5	169020507	169020507	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:169020507G>C	ENST00000265295.4	+	4	765	c.486G>C	c.(484-486)gaG>gaC	p.E162D	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.E162D(1)									TGTCTTCAGAGATGCTGGCTC	0.413000													26	108					0	0	0.681144	0	0
BRPF1	7862	broad.mit.edu	37	3	9783766	9783766	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:9783766C>T	ENST00000383829.2	+	6	2316	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C	BRPF1_ENST00000433861.2_Missense_Mutation_p.R638C|BRPF1_ENST00000302054.3_Missense_Mutation_p.R638C|BRPF1_ENST00000457855.1_Missense_Mutation_p.R638C|BRPF1_ENST00000424362.1_Missense_Mutation_p.R638C	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	638	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CATCCTCCTTCGCAAAACCTT	0.522000													38	48					0	0	0.796494	0	0
UBR2	23304	broad.mit.edu	37	6	42626426	42626426	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:42626426G>C	ENST00000372899.1	+	29	3364	c.3106G>C	c.(3106-3108)Gag>Cag	p.E1036Q	UBR2_ENST00000372883.3_Missense_Mutation_p.Q543H|UBR2_ENST00000372901.1_Missense_Mutation_p.E1036Q	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1036					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGAAAAGCAGAGATTGCCAG	0.388000													37	83					0	0	0.812448	0	0
POLK	51426	broad.mit.edu	37	5	74892778	74892778	+	Missense_Mutation	SNP	G	G	A	rs143539365	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:74892778G>A	ENST00000241436.4	+	13	2432	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.E556K|POLK_ENST00000352007.5_Missense_Mutation_p.E556K|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.E664K	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	754					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		ATTGGAAAACGAAGATGTTGG	0.368000								DNA polymerases (catalytic subunits)					13	204					0	0	0.411799	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	6					0	0	0.307466	0	0
ZNF560	147741	broad.mit.edu	37	19	9578057	9578057	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9578057C>T	ENST00000301480.4	-	10	1779	c.1566G>A	c.(1564-1566)ggG>ggA	p.G522G		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G522G(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TAAATGGTTTCCCACATTTGT	0.398000													47	156					0	0	0.853193	0	0
WNK4	65266	broad.mit.edu	37	17	40947774	40947774	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:40947774G>A	ENST00000246914.5	+	16	3175	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1052					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTCACTTCAGAGAGCTCAGA	0.587000													31	66					0	0	0.788014	0	0
LVRN	206338	broad.mit.edu	37	5	115361749	115361749	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:115361749G>A	ENST00000357872.4	+	20	3031	c.2907G>A	c.(2905-2907)aaG>aaA	p.K969K	CTD-2287O16.3_ENST00000600981.3_Intron	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		969					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AGACAATAAAGAATGAAAATC	0.433000													4	91					0	0	0.150653	0	0
WDR19	57728	broad.mit.edu	37	4	39233560	39233560	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:39233560C>T	ENST00000399820.3	+	18	2280	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F	WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Missense_Mutation_p.S549F	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	709					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						ATAGTGATGTCCTTGGAACAA	0.348000													29	78					0	0	0.750413	0	0
BRWD3	254065	broad.mit.edu	37	X	79999617	79999617	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:79999617C>T	ENST00000373275.4	-	8	943	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	243										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTACCTTATCACAGCTGCCT	0.443000													52	42					0	0	0.870114	0	0
DLC1	10395	broad.mit.edu	37	8	13356866	13356866	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:13356866C>T	ENST00000276297.4	-	2	1124	c.715G>A	c.(715-717)Gac>Aac	p.D239N	DLC1_ENST00000316609.5_Missense_Mutation_p.D239N|DLC1_ENST00000511869.1_Missense_Mutation_p.D239N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	239					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTAGGGGGGTCAGGTTTCCTT	0.398000													84	283					0	0	0.870114	0	0
IGHA1	3493	broad.mit.edu	37	14	106173649	106173649	+	RNA	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:106173649C>T	ENST00000390547.2	-	0	917																											TGTCCCCCTTCTTCCAGTCCT	0.642000													56	98					0	0	0.870114	0	0
HAS3	3038	broad.mit.edu	37	16	69148601	69148601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:69148601G>A	ENST00000306560.1	+	4	1250	c.1094G>A	c.(1093-1095)tGg>tAg	p.W365*	HAS3_ENST00000569188.1_Nonsense_Mutation_p.W365*|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	365					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TTCCGGGAGTGGCTCTACAAC	0.547000													4	183					0	0	0.150653	0	0
ZNF483	158399	broad.mit.edu	37	9	114304423	114304423	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:114304423C>G	ENST00000309235.5	+	6	1366	c.1208C>G	c.(1207-1209)tCa>tGa	p.S403*	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	403					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATTAGAAGATCAACTCTTTCT	0.393000													71	156					0	0	0.870114	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098944	178098944	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:178098944C>G	ENST00000397062.3	-	2	655	c.101G>C	c.(100-102)cGa>cCa	p.R34P	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18P|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18P|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18P|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R34Q(10)|p.R34P(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCC	0.373000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			34	70					0	0	0.750413	0	0
ZNF22	7570	broad.mit.edu	37	10	45498928	45498928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:45498928C>T	ENST00000298299.3	+	2	705	c.112C>T	c.(112-114)Cga>Tga	p.R38*	CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	38					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding	p.R38*(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				CATGACTATTCGATTTGACTC	0.453000													54	65					0	0	0.870114	0	0
C5orf38	153571	broad.mit.edu	37	5	2755246	2755246	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:2755246C>T	ENST00000397835.4	+	3	437	c.437C>T	c.(436-438)tCg>tTg	p.S146L	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	54						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GGCTCGGGCTCGGGGTCTCCC	0.716000													9	38					0	0	0.387290	0	0
ABCB7	22	broad.mit.edu	37	X	74288934	74288934	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:74288934C>T	ENST00000253577.3	-	12	1594	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	ABCB7_ENST00000339447.4_Missense_Mutation_p.E483K|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Missense_Mutation_p.E523K	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	523	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TTTTGAGGCTCATAGAAGCGA	0.403000													70	61					0	0	0.870114	0	0
MYH7	4625	broad.mit.edu	37	14	23882971	23882971	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:23882971C>G	ENST00000355349.3	-	39	5949	c.5787G>C	c.(5785-5787)acG>acC	p.T1929T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1929			T -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GACCCACCTTCGTGCCAATGT	0.592000													48	36					0	0	0.870114	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329668	88329668	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:88329668C>G	ENST00000325089.6	+	2	2244	c.2025C>G	c.(2023-2025)atC>atG	p.I675M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.I434M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	675						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGGTTTTCATCATGTCCGTCT	0.617000													14	61					0	0	0.435327	0	0
DARS2	55157	broad.mit.edu	37	1	173795878	173795878	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:173795878C>T	ENST00000361951.4	+	2	908	c.181C>T	c.(181-183)Cac>Tac	p.H61Y	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	61					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GCGTTCGTCTCACTTAGGCCA	0.388000													18	134					0	0	0.575678	0	0
DGKK	139189	broad.mit.edu	37	X	50167295	50167295	+	RNA	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:50167295C>G	ENST00000376025.2	-	0	766							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAGAAAATATCTAAGCTTCCA	0.403000													12	26					0	0	0.457914	0	0
CLEC18C	283971	broad.mit.edu	37	16	70211291	70211291	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:70211291G>C	ENST00000569347.2	+	3	618	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	CLEC18C_ENST00000536907.2_Missense_Mutation_p.E122Q|CLEC18C_ENST00000314151.8_Missense_Mutation_p.E122Q|CLEC18C_ENST00000541793.2_Missense_Mutation_p.E122Q|CLEC18C_ENST00000561612.1_Intron	NM_173619.2	NP_775890.2			C-type lectin domain family 18, member C											endometrium(3)|large_intestine(6)|lung(1)	10						GTCCTTTGTTGAAGTGGTCAG	0.647000													21	79					0	0	0.608945	0	0
BAG3	9531	broad.mit.edu	37	10	121436717	121436717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:121436717C>T	ENST00000369085.3	+	4	1957	c.1651C>T	c.(1651-1653)Cag>Tag	p.Q551*		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	551					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGAAACCCAGCAGCCAGAAGC	0.552000													31	52					0	0	0.740014	0	0
NDUFA2	4695	broad.mit.edu	37	5	140026901	140026901	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140026901C>T	ENST00000252102.4	-	2	349	c.148G>A	c.(148-150)Gac>Aac	p.D50N	NDUFA2_ENST00000512088.1_Missense_Mutation_p.D50N	NM_001185012.1|NM_002488.4	NP_001171941.1|NP_002479.1	O43678	NDUA2_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa	50			D -> N (in a breast cancer sample; somatic mutation).		mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.D50N(1)		breast(1)|endometrium(3)|large_intestine(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		NADH(DB00157)	ATGGGTAGGTCGGGATTCGCC	0.662000													6	81					0	0	0.278610	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361538	70361538	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:70361538C>T	ENST00000305107.6	-	1	88	c.42G>A	c.(40-42)ctG>ctA	p.L14L	UGT2B4_ENST00000512583.1_Silent_p.L14L|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	14					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AGTAACAGCTCAGCTGTATCA	0.453000													83	228					0	0	0.870114	0	0
TBX20	57057	broad.mit.edu	37	7	35242187	35242187	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:35242187G>T	ENST00000408931.3	-	8	1725	c.1199C>A	c.(1198-1200)tCg>tAg	p.S400*		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	400						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGCAATGGCCGATGGTGTCAG	0.562000													16	51					9.7654e-05	0.000100175	0.557998	1	0
PRSS12	8492	broad.mit.edu	37	4	119256647	119256647	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:119256647G>C	ENST00000296498.3	-	3	1083	c.801C>G	c.(799-801)gtC>gtG	p.V267V		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	267	SRCR 1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGCTACACGTGACAGCAGCTG	0.403000													32	134					0	0	0.760397	0	0
PRDM4	11108	broad.mit.edu	37	12	108134781	108134781	+	Silent	SNP	G	G	A	rs145990889		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:108134781G>A	ENST00000228437.5	-	10	2325	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	622					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CCTTGCTACAGAAATCACACT	0.458000													79	187					0	0	0.870114	0	0
TMED7	51014	broad.mit.edu	37	5	114961327	114961327	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:114961327G>C	ENST00000456936.3	-	1	543	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	TMED7_ENST00000503010.1_Intron|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.Q55E|TICAM2_ENST00000408996.4_Missense_Mutation_p.Q55E|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.Q55E	NM_181836.5	NP_861974.1			transmembrane emp24 protein transport domain containing 7											breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		TTGGTGCCCTGAGCGATGTCC	0.627000													11	31					0	0	0.411799	0	0
CEP170	9859	broad.mit.edu	37	1	243319598	243319598	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:243319598G>C	ENST00000366542.1	-	14	3887	c.3836C>G	c.(3835-3837)tCt>tGt	p.S1279C	CEP170_ENST00000481987.1_Missense_Mutation_p.S5C|CEP170_ENST00000366543.1_Missense_Mutation_p.S1145C|CEP170_ENST00000366544.1_Missense_Mutation_p.S1181C|CEP170_ENST00000490813.1_Missense_Mutation_p.S5C	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1279	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTGAATGAAGAACTAGTAGG	0.463000													3	20					0	0	0.150653	0	0
HSPB7	27129	broad.mit.edu	37	1	16344280	16344280	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:16344280G>A	ENST00000311890.9	-	1	1005	c.179C>T	c.(178-180)tCg>tTg	p.S60L	HSPB7_ENST00000487046.1_Missense_Mutation_p.S60L|HSPB7_ENST00000375718.4_Missense_Mutation_p.S135L|HSPB7_ENST00000411503.1_Missense_Mutation_p.S60L|HSPB7_ENST00000406363.2_Missense_Mutation_p.S60L|HSPB7_ENST00000545268.1_Missense_Mutation_p.S60L	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	60	Required for localization to SC35 splicing speckles.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGGGCTCCGAGTGGGGCCG	0.687000													11	19					0	0	0.361761	0	0
ZNF683	257101	broad.mit.edu	37	1	26688267	26688267	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:26688267C>G	ENST00000436292.1	-	7	1570	c.1450G>C	c.(1450-1452)Gag>Cag	p.E484Q	ZNF683_ENST00000374204.1_Missense_Mutation_p.E464Q|ZNF683_ENST00000349618.3_Missense_Mutation_p.E464Q|ZNF683_ENST00000403843.1_Missense_Mutation_p.E484Q			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ATGTGTTTCTCAGATGCCACC	0.602000													35	127					0	0	0.804634	0	0
RNF17	56163	broad.mit.edu	37	13	25374667	25374667	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:25374667A>C	ENST00000255324.5	+	13	1805	c.1753A>C	c.(1753-1755)Aat>Cat	p.N585H	RNF17_ENST00000381921.1_Missense_Mutation_p.N585H|RNF17_ENST00000255325.5_Missense_Mutation_p.N586H	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	585					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGTTCCACAGAATTCAGTAAG	0.373000													4	84					0	0	0.184627	0	0
SLC5A9	200010	broad.mit.edu	37	1	48697260	48697260	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:48697260G>A	ENST00000236495.5	+	7	779	c.729G>A	c.(727-729)gtG>gtA	p.V243V	SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Silent_p.V239V|SLC5A9_ENST00000438567.2_Silent_p.V218V	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	218						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						TGCAGACGGTGATCATGGTAG	0.542000													13	81					0	0	0.520397	0	0
TCEAL5	340543	broad.mit.edu	37	X	102528931	102528931	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:102528931C>G	ENST00000372680.1	-	3	855	c.561G>C	c.(559-561)gtG>gtC	p.V187V		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	187					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						TCACTCCCCTCACACCCCGTT	0.483000													49	63					0	0	0.870114	0	0
NLRP13	126204	broad.mit.edu	37	19	56423803	56423803	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56423803G>A	ENST00000588751.1	-	5	1404	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	NLRP13_ENST00000342929.3_Silent_p.F460F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	460	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACAAGTTGGAGAAAAAATAGG	0.507000													42	106					0	0	0.840704	0	0
FSTL1	11167	broad.mit.edu	37	3	120118774	120118774	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:120118774C>T	ENST00000295633.3	-	10	1194	c.838G>A	c.(838-840)Gag>Aag	p.E280K	FSTL1_ENST00000424703.2_Missense_Mutation_p.E245K	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	280	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		ATCTCCTCCTCTGTCTGGGTC	0.542000													11	20					0	0	0.457914	0	0
KCTD7	154881	broad.mit.edu	37	7	66248715	66248715	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:66248715G>A	ENST00000380828.2	+	6	674	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Missense_Mutation_p.E134K|RABGEF1_ENST00000439720.2_Missense_Mutation_p.E147K|KCTD7_ENST00000510829.2_Missense_Mutation_p.E134K|KCTD7_ENST00000451741.2_Missense_Mutation_p.E134K|RABGEF1_ENST00000284957.5_Missense_Mutation_p.E134K|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E148K			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AACCAGCATTGAAACGGATAG	0.393000													23	50					0	0	0.667858	0	0
APAF1	317	broad.mit.edu	37	12	99077046	99077046	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:99077046C>A	ENST00000357310.1	+	15	2749	c.2172C>A	c.(2170-2172)ttC>ttA	p.F724L	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.F724L|APAF1_ENST00000550527.1_Missense_Mutation_p.F713L|APAF1_ENST00000549007.1_Missense_Mutation_p.F724L|APAF1_ENST00000547045.1_Missense_Mutation_p.F724L|APAF1_ENST00000359972.2_Missense_Mutation_p.F713L|APAF1_ENST00000339433.3_Missense_Mutation_p.F724L|APAF1_ENST00000333991.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	724					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GTGACTGCTTCCTCAAAGTAA	0.378000													64	184					1.35869e-18	1.44302e-18	0.870114	1	0
NBN	4683	broad.mit.edu	37	8	90965508	90965508	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:90965508G>A	ENST00000265433.3	-	11	1963	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	NBN_ENST00000409330.1_Silent_p.F521F	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	603					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTTCATCACTGAAAGTGTCAT	0.343000								Homologous recombination					67	262					0	0	0.870114	0	0
MIR519A1	574496	broad.mit.edu	37	19	54255684	54255684	+	RNA	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:54255684C>G	ENST00000385257.1	+	0	34					NR_030218.1																						GAAGCGCTTTCTGTTGTCTGA	0.418000													63	171					0	0	0.870114	0	0
ST13	6767	broad.mit.edu	37	22	41226906	41226906	+	Missense_Mutation	SNP	C	C	T	rs148186652	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:41226906C>T	ENST00000216218.3	-	9	1217	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	246							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TCTTTGATCTCTCGCTCTTCA	0.413000													32	130					0	0	0.740014	0	0
GPATCH2	55105	broad.mit.edu	37	1	217783737	217783737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:217783737G>A	ENST00000366935.3	-	5	1134	c.1024C>T	c.(1024-1026)Caa>Taa	p.Q342*	GPATCH2_ENST00000366934.3_Nonsense_Mutation_p.Q342*	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	342						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AGTCTAGCTTGGAAACCTGTA	0.348000													20	130					0	0	0.592651	0	0
GSK3B	2932	broad.mit.edu	37	3	119624670	119624670	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:119624670C>T	ENST00000264235.8	-	7	1727	c.745G>A	c.(745-747)Gag>Aag	p.E249K	GSK3B_ENST00000316626.5_Missense_Mutation_p.E249K	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	249	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	AGTAACAGCTCAGCCAACACA	0.388000													301	428					0	0	0.870114	0	0
RLF	6018	broad.mit.edu	37	1	40703619	40703619	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:40703619C>G	ENST00000372771.4	+	8	3272	c.3245C>G	c.(3244-3246)tCa>tGa	p.S1082*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1082					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGATCTTTCTCAGGGTCATTG	0.408000													47	186					0	0	0.864702	0	0
NFX1	4799	broad.mit.edu	37	9	33366762	33366762	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:33366762A>T	ENST00000379540.3	+	22	3237	c.3175A>T	c.(3175-3177)Act>Tct	p.T1059S	NFX1_ENST00000463421.1_3'UTR	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1059	R3H.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGTGGTGGTCACTGCCATCAG	0.527000													14	20					0	0	0.520397	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591192	234591192	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:234591192C>T	ENST00000373426.3	+	1	609	c.609C>T	c.(607-609)ttC>ttT	p.F203F	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCATGACTTTCAAGGAGAGAG	0.428000													105	251					0	0	0.870114	0	0
KIAA0226	9711	broad.mit.edu	37	3	197420604	197420604	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:197420604C>T	ENST00000273582.5	-	12	2178	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	KIAA0226_ENST00000389665.5_Missense_Mutation_p.D590N|KIAA0226_ENST00000296343.5_Missense_Mutation_p.D590N	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	590					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCAAATTCATCAACCTCATCA	0.428000													25	108					0	0	0.667858	0	0
ADAM23	8745	broad.mit.edu	37	2	207413038	207413038	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:207413038C>T	ENST00000264377.3	+	8	1155	c.827C>T	c.(826-828)tCt>tTt	p.S276F	ADAM23_ENST00000374416.1_Missense_Mutation_p.S276F|ADAM23_ENST00000374415.3_Missense_Mutation_p.S276F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	276					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCCTTTCTCTCTGAATTACAG	0.388000													32	86					0	0	0.788014	0	0
DEAF1	10522	broad.mit.edu	37	11	691546	691546	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:691546G>A	ENST00000382409.3	-	2	826	c.342C>T	c.(340-342)ttC>ttT	p.F114F	DEAF1_ENST00000338675.6_Silent_p.F114F	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	114	Ala-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CAGACGTGGTGAAGACATTGT	0.592000													15	42					0	0	0.500413	0	0
TMEM260	54916	broad.mit.edu	37	14	57052606	57052606	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:57052606C>G	ENST00000261556.6	+	3	442	c.320C>G	c.(319-321)tCa>tGa	p.S107*	TMEM260_ENST00000538838.1_Nonsense_Mutation_p.S107*|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		GTAGCTGCATCATTACTTTTT	0.378000													141	129					0	0	0.870114	0	0
MYO15A	51168	broad.mit.edu	37	17	18077224	18077224	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:18077224C>A	ENST00000205890.5	+	65	10818	c.10480C>A	c.(10480-10482)Cag>Aag	p.Q3494K	MYO15A_ENST00000418233.3_Missense_Mutation_p.Q758K|MYO15A_ENST00000451725.2_Intron|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3494	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTGCAGCTGCAGCTGGAGCA	0.662000													17	35					9.7654e-05	0.000100175	0.557998	1	0
DNAH10	196385	broad.mit.edu	37	12	124325980	124325980	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:124325980C>T	ENST00000409039.3	+	29	4919	c.4894C>T	c.(4894-4896)Cgg>Tgg	p.R1632W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1632	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R224W(1)|p.R1632W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGATCTTGCGGGCTGAAGG	0.453000													5	247					0	0	0.217242	0	0
SSTR3	6753	broad.mit.edu	37	22	37603432	37603432	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:37603432C>G	ENST00000328544.3	-	2	944	c.411G>C	c.(409-411)atG>atC	p.M137I	SSTR3_ENST00000402501.1_Missense_Mutation_p.M137I	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	137					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GGTCCACGCTCATGACAGTCA	0.667000													34	94					0	0	0.812448	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178771042	178771042	+	Missense_Mutation	SNP	C	C	T	rs150047440		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:178771042C>T	ENST00000251582.7	-	2	361	c.260G>A	c.(259-261)cGc>cAc	p.R87H	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.R87H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	87					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGCGGCCCTGCGGGCTCGTAC	0.697000													18	39					0	0	0.575678	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44512005	44512005	+	Silent	SNP	C	C	G	rs116789871	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:44512005C>G	ENST00000372523.1	+	2	869	c.774C>G	c.(772-774)ctC>ctG	p.L258L	ZSWIM1_ENST00000372520.1_Silent_p.L258L	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	258							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TCCAGAGCCTCGAGGTCACCA	0.572000													3	149					0	0	0.150653	0	0
DIP2B	57609	broad.mit.edu	37	12	51116990	51116990	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:51116990G>C	ENST00000301180.5	+	27	3206	c.3172G>C	c.(3172-3174)Gag>Cag	p.E1058Q		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1058						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGCAGGCATTGAGTTAATCGC	0.498000													48	171					0	0	0.870114	0	0
CALHM2	51063	broad.mit.edu	37	10	105209672	105209672	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:105209672G>A	ENST00000393235.1	-	3	1224	c.27C>T	c.(25-27)ttC>ttT	p.F9F	CALHM2_ENST00000369788.3_Silent_p.F9F|CALHM2_ENST00000260743.5_Silent_p.F9F|CALHM2_ENST00000494180.1_5'UTR			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	9						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						ACAGGAAGCGGAAGTTCTCTG	0.577000													68	79					0	0	0.870114	0	0
ARID1A	8289	broad.mit.edu	37	1	27101074	27101074	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:27101074G>C	ENST00000324856.7	+	18	4727	c.4356G>C	c.(4354-4356)caG>caC	p.Q1452H	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q1069H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1452					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCGGCCCCCAGAACCAATTTC	0.587000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								4	159					0	0	0.248553	0	0
A2M	2	broad.mit.edu	37	12	9251338	9251338	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:9251338G>C	ENST00000318602.7	-	15	2023	c.1716C>G	c.(1714-1716)ttC>ttG	p.F572L		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	572					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GTGATGGGCTGAAGCTCAAAT	0.532000													3	16					0	0	0.150653	0	0
OR10A5	144124	broad.mit.edu	37	11	6866955	6866955	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6866955C>T	ENST00000299454.4	+	1	73	c.42C>T	c.(40-42)ctC>ctT	p.L14L	OR10A5_ENST00000379831.2_Silent_p.L18L			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATTTATCCTCATGAGCTTCT	0.413000													7	484					0	0	0.248553	0	0
DNHD1	144132	broad.mit.edu	37	11	6587845	6587845	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6587845G>C	ENST00000254579.6	+	35	11799	c.11235G>C	c.(11233-11235)ctG>ctC	p.L3745L	DNHD1_ENST00000527990.2_Silent_p.L3745L	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3745					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TAAAGGGGCTGAATGTGTTGG	0.512000													9	28					0	0	0.361761	0	0
RXFP1	59350	broad.mit.edu	37	4	159568311	159568311	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:159568311G>A	ENST00000307765.5	+	16	1965	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	RXFP1_ENST00000460056.2_Missense_Mutation_p.E491K|RXFP1_ENST00000448688.2_Missense_Mutation_p.E467K|RXFP1_ENST00000470033.1_Missense_Mutation_p.E539K|RXFP1_ENST00000343542.5_Missense_Mutation_p.E524K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	572						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGAAGATACAGAAAGTATTGG	0.333000													30	89					0	0	0.750413	0	0
FRAS1	80144	broad.mit.edu	37	4	79321968	79321968	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:79321968C>T	ENST00000264895.6	+	30	4496	c.4056C>T	c.(4054-4056)atC>atT	p.I1352I	FRAS1_ENST00000325942.6_Silent_p.I1352I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1351					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCAACAGAATCTTACAGGCCG	0.458000													18	47					0	0	0.520397	0	0
LIMK1	3984	broad.mit.edu	37	7	73523309	73523309	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:73523309C>G	ENST00000418310.1	+	10	1419	c.1317C>G	c.(1315-1317)ctC>ctG	p.L439L	LIMK1_ENST00000538333.3_Silent_p.L375L|LIMK1_ENST00000336180.2_Silent_p.L409L			P53667	LIMK1_HUMAN	LIM domain kinase 1	409	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				ACAAGAGGCTCAACTTCATCA	0.622000													19	31					0	0	0.592651	0	0
DUSP18	150290	broad.mit.edu	37	22	31059444	31059444	+	Missense_Mutation	SNP	G	G	A	rs142285924	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:31059444G>A	ENST00000334679.3	-	2	1052	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	DUSP18_ENST00000404885.1_Missense_Mutation_p.R183C|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.R183C|DUSP18_ENST00000403268.1_3'UTR	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	183						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.R183C(1)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ATCATCAAACGGACTTCCTTC	0.468000													16	79					0	0	0.479597	0	0
RINT1	60561	broad.mit.edu	37	7	105189098	105189098	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:105189098C>G	ENST00000257700.2	+	7	1168	c.937C>G	c.(937-939)Ctt>Gtt	p.L313V		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	313	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCTGACTCCTCTTCAGAAGAG	0.463000													5	349					0	0	0.184627	0	0
UBR5	51366	broad.mit.edu	37	8	103323529	103323529	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:103323529C>G	ENST00000520539.1	-	20	3220	c.2614G>C	c.(2614-2616)Gag>Cag	p.E872Q	UBR5_ENST00000521922.1_Missense_Mutation_p.E866Q|UBR5_ENST00000220959.4_Missense_Mutation_p.E872Q	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	872					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)			CAAATTACCTCTACAGCCATG	0.333000													36	154					0	0	0.819951	0	0
ZNF490	57474	broad.mit.edu	37	19	12721450	12721450	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:12721450G>C	ENST00000311437.6	-	1	167	c.45C>G	c.(43-45)ctC>ctG	p.L15L	ZNF490_ENST00000465656.1_Intron	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTGCTCCTCGAGGGGTCGCT	0.567000													39	104					0	0	0.827153	0	0
GPBAR1	151306	broad.mit.edu	37	2	219127711	219127711	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:219127711C>G	ENST00000522678.1	+	2	1132	c.264C>G	c.(262-264)gtC>gtG	p.V88V	GPBAR1_ENST00000521462.1_Silent_p.V88V|GPBAR1_ENST00000519574.1_Silent_p.V88V|GPBAR1_ENST00000479077.1_Silent_p.V88V	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	88						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTCCTCGTCTACTTGGCTC	0.632000													16	56					0	0	0.520397	0	0
DDI1	414301	broad.mit.edu	37	11	103908514	103908514	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:103908514G>A	ENST00000302259.3	+	1	1207	c.964G>A	c.(964-966)Gag>Aag	p.E322K	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	322					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTCCATACTTGAGGATCAACC	0.448000													47	156					0	0	0.853193	0	0
MUC17	140453	broad.mit.edu	37	7	100684033	100684033	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100684033C>G	ENST00000306151.4	+	3	9400	c.9336C>G	c.(9334-9336)gtC>gtG	p.V3112V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3112	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGTGCCTGTCAGCACCACAC	0.493000													157	397					0	0	0.870114	0	0
SYNE1	23345	broad.mit.edu	37	6	152686067	152686067	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:152686067C>G	ENST00000367255.5	-	63	10661	c.10060G>C	c.(10060-10062)Gaa>Caa	p.E3354Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.E3361Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3361Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3354Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3393Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3354					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)		GGAATGCCTTCTGGAGAAGTA	0.438000										HNSCC(10;0.0054)			36	123					0	0	0.779181	0	0
DAPK1	1612	broad.mit.edu	37	9	90321338	90321338	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:90321338G>A	ENST00000469640.2	+	27	3802	c.3427G>A	c.(3427-3429)Gat>Aat	p.D1143N	DAPK1_ENST00000408954.3_Missense_Mutation_p.D1118N|DAPK1_ENST00000358077.5_Missense_Mutation_p.D1118N|DAPK1_ENST00000491893.1_Missense_Mutation_p.D1052N|DAPK1_ENST00000472284.1_Missense_Mutation_p.D1118N			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1118					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CTCCTGGGCTGATGAGGAGGA	0.617000									Chronic Lymphocytic Leukemia, Familial Clustering of				10	33					0	0	0.387290	0	0
ERO1LB	56605	broad.mit.edu	37	1	236416724	236416724	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:236416724C>G	ENST00000354619.5	-	3	505	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	ERO1LB_ENST00000327333.8_Missense_Mutation_p.E102Q	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	102					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	p.E102K(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TATTATACCTCTGGACAGGGC	0.383000													22	34					0	0	0.639603	0	0
MAP3K13	9175	broad.mit.edu	37	3	185200197	185200197	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:185200197G>C	ENST00000265026.3	+	14	3188	c.2854G>C	c.(2854-2856)Gat>Cat	p.D952H	MAP3K13_ENST00000443863.1_Missense_Mutation_p.D808H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.D808H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D952H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.D745H|TMEM41A_ENST00000475480.1_Intron	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	952					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAGTGTTCTGATGCCACAGT	0.433000													6	582					0	0	0.248553	0	0
ZSCAN16	80345	broad.mit.edu	37	6	28097416	28097416	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:28097416C>T	ENST00000340487.4	+	4	884	c.735C>T	c.(733-735)ttC>ttT	p.F245F	RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	245					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAAAAGTTTCAGTCATAGCT	0.418000													44	52					0	0	0.840704	0	0
MPP5	64398	broad.mit.edu	37	14	67784156	67784156	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:67784156G>C	ENST00000261681.4	+	11	1990	c.1329G>C	c.(1327-1329)aaG>aaC	p.K443N	MPP5_ENST00000555925.1_Missense_Mutation_p.K409N|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	443					tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGAATAAAAAGAAGAGGAAAA	0.338000													42	34					0	0	0.870114	0	0
EPG5	57724	broad.mit.edu	37	18	43534974	43534974	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:43534974C>T	ENST00000282041.5	-	2	428	c.394G>A	c.(394-396)Gta>Ata	p.V132I		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	132					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGGGTTTCTACTTTAGTTCCA	0.493000													46	89					0	0	0.870114	0	0
UBE3C	9690	broad.mit.edu	37	7	156931979	156931979	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:156931979G>A	ENST00000348165.5	+	1	373	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	UBE3C_ENST00000389103.4_Missense_Mutation_p.E5K	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	5	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTTCAGCTTCGAAGGCGACTT	0.766000													4	23					0	0	0.217242	0	0
DOCK9	23348	broad.mit.edu	37	13	99549807	99549807	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:99549807G>C	ENST00000376460.1	-	15	1724	c.1644C>G	c.(1642-1644)atC>atG	p.I548M	DOCK9_ENST00000442173.1_Missense_Mutation_p.I548M|DOCK9_ENST00000448493.2_Missense_Mutation_p.I560M|DOCK9_ENST00000339416.2_Missense_Mutation_p.I549M	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	549					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTGCCTGTAGATGGCAGAAA	0.388000													57	275					0	0	0.870114	0	0
HSPA1B	3304	broad.mit.edu	37	6	31797593	31797593	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:31797593C>T	ENST00000375650.3	+	1	2082	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	HSPA1B_ENST00000545241.1_Silent_p.F531F	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	622					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|large_intestine(1)|prostate(1)	3						CTGGCGGCTTCGGGGCTCAGG	0.587000													94	89					0	0	0.870114	0	0
PDE5A	8654	broad.mit.edu	37	4	120419875	120419875	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:120419875C>G	ENST00000354960.3	-	21	2828	c.2509G>C	c.(2509-2511)Gag>Cag	p.E837Q	PDE5A_ENST00000264805.5_Missense_Mutation_p.E795Q|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.E785Q	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	837	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.E837K(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAACAGTCCTCTGACACGTGG	0.502000													50	138					0	0	0.870114	0	0
LRRC8D	55144	broad.mit.edu	37	1	90401042	90401042	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:90401042G>A	ENST00000337338.5	+	3	2822	c.2415G>A	c.(2413-2415)ctG>ctA	p.L805L	LRRC8D_ENST00000394593.3_Silent_p.L805L	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	805						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGCTGGAGCTGAAGGGGAACT	0.527000													37	64					0	0	0.812448	0	0
NBEAL2	23218	broad.mit.edu	37	3	47045664	47045664	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:47045664C>T	ENST00000450053.3	+	37	6158	c.5979C>T	c.(5977-5979)atC>atT	p.I1993I	NBEAL2_ENST00000292309.5_Silent_p.I1809I|NBEAL2_ENST00000383740.2_Silent_p.I272I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1993							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTTCTTTATCGATCAGGCCA	0.602000													209	187					0	0	0.870114	0	0
STAR	6770	broad.mit.edu	37	8	38005783	38005783	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:38005783C>T	ENST00000276449.4	-	3	687	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	81	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TGCATGGCCTCCTCCCCCTGC	0.567000													23	39					0	0	0.639603	0	0
MST1	4485	broad.mit.edu	37	3	49723345	49723345	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49723345G>A	ENST00000449682.2	-	10	1559	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	386	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACACCCTTGCGGGTCTTGCTG	0.731000													3	81					0	0	0.150653	0	0
PEX5L	51555	broad.mit.edu	37	3	179533749	179533749	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:179533749C>G	ENST00000467460.1	-	10	1313	c.983G>C	c.(982-984)gGa>gCa	p.G328A	PEX5L_ENST00000468741.1_Missense_Mutation_p.G136A|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.G304A|PEX5L_ENST00000464614.1_Missense_Mutation_p.G220A|PEX5L_ENST00000392649.3_Missense_Mutation_p.G220A|PEX5L_ENST00000263962.8_Missense_Mutation_p.G326A|PEX5L_ENST00000485199.1_Missense_Mutation_p.G293A|PEX5L_ENST00000476138.1_Missense_Mutation_p.G285A|PEX5L_ENST00000472994.1_Missense_Mutation_p.G269A	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	328					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTCAAATGCTCCAGGCCAGTC	0.473000													24	213					0	0	0.639603	0	0
MUC16	94025	broad.mit.edu	37	19	9065271	9065271	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9065271G>A	ENST00000397910.4	-	3	22378	c.22175C>T	c.(22174-22176)cCa>cTa	p.P7392L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7394	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGGAAGATGGAGGGCTTGT	0.507000													27	52					0	0	0.693898	0	0
CILP	8483	broad.mit.edu	37	15	65499133	65499133	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:65499133G>A	ENST00000261883.4	-	4	577	c.411C>T	c.(409-411)ttC>ttT	p.F137F		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	137					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTGGGCAGAGGAAGCGTACGG	0.627000													67	160					0	0	0.870114	0	0
ZNF407	55628	broad.mit.edu	37	18	72343890	72343890	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:72343890A>G	ENST00000299687.5	+	1	915	c.915A>G	c.(913-915)ccA>ccG	p.P305P	ZNF407_ENST00000577538.1_Silent_p.P305P|ZNF407_ENST00000309902.6_Silent_p.P305P|ZNF407_ENST00000582337.1_Silent_p.P305P	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACTCAAAACCAAGAACTTCTA	0.343000													46	67					0	0	0.859065	0	0
RSF1	51773	broad.mit.edu	37	11	77378293	77378293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:77378293G>C	ENST00000308488.6	-	16	4297	c.3995C>G	c.(3994-3996)tCa>tGa	p.S1332*	RSF1_ENST00000360355.2_Nonsense_Mutation_p.S1301*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.S1080*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1332					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTGTTCTGAGGGCAGGAC	0.522000													61	153					0	0	0.870114	0	0
CDK13	8621	broad.mit.edu	37	7	40134276	40134276	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:40134276C>T	ENST00000181839.4	+	14	4841	c.4236C>T	c.(4234-4236)ctC>ctT	p.L1412L	CDK13_ENST00000340829.5_Silent_p.L1352L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1412					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ACATTTACCTCAATGCTGGTC	0.473000													82	235					0	0	0.870114	0	0
R3HDM4	91300	broad.mit.edu	37	19	900136	900136	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:900136G>C	ENST00000361574.5	-	5	559	c.486C>G	c.(484-486)gcC>gcG	p.A162A	R3HDM4_ENST00000587975.1_Silent_p.A141A	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN	R3H domain containing 4	162	Arg-rich.					nucleus	nucleic acid binding										GGGGTGTATAGGCGGGGTCCT	0.692000													25	42					0	0	0.654019	0	0
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:228396G>C	ENST00000264932.6	+	6	833	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q|SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	240			E -> Q (in dbSNP:rs1041946).		nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	p.E240Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418000									Familial Paragangliomas				4	134					0	0	0.217242	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611623	42611623	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:42611623G>A	ENST00000276410.2	-	5	1074	c.719C>T	c.(718-720)cCg>cTg	p.P240L	CHRNA6_ENST00000534622.1_Missense_Mutation_p.P225L	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	240						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTAAAACATCGGCAATCTTCT	0.368000													28	56					0	0	0.693898	0	0
DNAH9	1770	broad.mit.edu	37	17	11835355	11835355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:11835355G>T	ENST00000262442.3	+	64	12198	c.12130G>T	c.(12130-12132)Gag>Tag	p.E4044*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E3968*|DNAH9_ENST00000396001.2_Nonsense_Mutation_p.E356*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4044	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGTTCTCGGGAGACGGAGTT	0.498000													119	385					1.74062e-63	1.89438e-63	0.870114	1	0
CYP20A1	57404	broad.mit.edu	37	2	204143376	204143376	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:204143376G>C	ENST00000356079.4	+	7	883	c.760G>C	c.(760-762)Gac>Cac	p.D254H	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.D262H	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	254						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TATTTTCATTGACTCCTTAGT	0.358000													6	40					0	0	0.248553	0	0
ODF2	4957	broad.mit.edu	37	9	131231605	131231605	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:131231605G>A	ENST00000303890.5	+	7	906	c.321G>A	c.(319-321)atG>atA	p.M107I	ODF2_ENST00000448249.3_Intron|ODF2_ENST00000434106.2_Missense_Mutation_p.M131I|ODF2_ENST00000372791.3_Missense_Mutation_p.M112I|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000444119.2_Missense_Mutation_p.M107I|ODF2_ENST00000546203.1_Missense_Mutation_p.M112I|ODF2_ENST00000372807.5_Missense_Mutation_p.M126I|ODF2_ENST00000351030.3_Missense_Mutation_p.M126I|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372796.4_Missense_Mutation_p.M131I|ODF2_ENST00000393533.2_Missense_Mutation_p.M131I|ODF2_ENST00000372814.3_Missense_Mutation_p.M175I	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	131					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATAGTCTAATGAATGCGGTTG	0.488000													51	205					0	0	0.870114	0	0
MYO16	23026	broad.mit.edu	37	13	109438029	109438029	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:109438029T>C	ENST00000356711.2	+	5	614	c.488T>C	c.(487-489)tTa>tCa	p.L163S	MYO16_ENST00000357550.2_Missense_Mutation_p.L163S|MYO16_ENST00000251041.5_Missense_Mutation_p.L163S|MYO16_ENST00000467639.1_3'UTR	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	163					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AATATCCCATTAGATTATGCT	0.333000													13	119					0	0	0.539581	0	0
CFLAR	8837	broad.mit.edu	37	2	202025277	202025277	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:202025277G>A	ENST00000309955.2	+	9	1431	c.916G>A	c.(916-918)Gac>Aac	p.D306N	CFLAR_ENST00000423241.2_Missense_Mutation_p.D306N|CFLAR_ENST00000443227.1_Missense_Mutation_p.D210N|CFLAR_ENST00000457277.1_Missense_Mutation_p.D306N|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000341582.6_Missense_Mutation_p.D271N|CFLAR_ENST00000479953.2_Missense_Mutation_p.D210N|CFLAR_ENST00000340870.5_Missense_Mutation_p.D306N	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	306	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CCGAGACTACGACAGCTTTGT	0.527000													61	219					0	0	0.870114	0	0
ADCY1	107	broad.mit.edu	37	7	45662289	45662289	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:45662289G>C	ENST00000297323.7	+	4	989	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	ADCY1_ENST00000432715.1_Missense_Mutation_p.E98Q	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	323					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACAGCCCAGGAGCTGGTGAA	0.507000													10	65					0	0	0.335167	0	0
HPS5	11234	broad.mit.edu	37	11	18318449	18318449	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18318449G>C	ENST00000396253.3	-	11	1526	c.1064C>G	c.(1063-1065)tCc>tGc	p.S355C	HPS5_ENST00000438420.2_Missense_Mutation_p.S355C|HPS5_ENST00000531848.1_Missense_Mutation_p.S355C|HPS5_ENST00000349215.3_Missense_Mutation_p.S469C	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	469						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCTGTGAAGGGAGCAAGAGTC	0.418000									Hermansky-Pudlak syndrome				64	181					0	0	0.870114	0	0
SKIV2L	6499	broad.mit.edu	37	6	31933627	31933627	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:31933627C>G	ENST00000375394.2	+	18	2152	c.2039C>G	c.(2038-2040)tCc>tGc	p.S680C	SKIV2L_ENST00000544581.1_Missense_Mutation_p.S487C	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	680	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GTGTTTGACTCCATGCGCAAA	0.587000													58	50					0	0	0.870114	0	0
SMTNL2	342527	broad.mit.edu	37	17	4498466	4498466	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:4498466C>T	ENST00000389313.4	+	5	900	c.833C>T	c.(832-834)tCg>tTg	p.S278L	SMTNL2_ENST00000338859.4_Missense_Mutation_p.S134L	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	278										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CCACCCCAGTCGCCCGTGTCC	0.677000													15	47					0	0	0.479597	0	0
C5orf66	100996485	broad.mit.edu	37	5	134678905	134678905	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:134678905G>A	ENST00000432382.3	+	6	1009	c.187G>A	c.(187-189)Gag>Aag	p.E63K	H2AFY_ENST00000312469.4_Intron|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000511689.1_Intron|CTC-203F4.1_ENST00000555438.1_Intron|H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000512507.1_Intron|H2AFY_ENST00000423969.2_Intron	NM_001277348.1	NP_001264277.1																					TGTGTGCGCAGAGAGACACAC	0.532000													18	59					0	0	0.520397	0	0
SPRYD7	57213	broad.mit.edu	37	13	50489231	50489231	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:50489231C>G	ENST00000378195.2	-	4	696	c.442G>C	c.(442-444)Gaa>Caa	p.E148Q	SPRYD7_ENST00000361840.3_Missense_Mutation_p.E187Q	NM_001127482.1	NP_001120954.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	187	B30.2/SPRY.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						AATATTTTTTCAAAACCAGGT	0.279000													14	79					0	0	0.520397	0	0
MED17	9440	broad.mit.edu	37	11	93523943	93523943	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:93523943G>A	ENST00000251871.3	+	3	908	c.621G>A	c.(619-621)ctG>ctA	p.L207L		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	207					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCGGAGATCTGAGCTACAGAA	0.418000													16	69					0	0	0.500413	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24958901	24958901	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:24958901G>T	ENST00000289968.6	-	14	1212	c.1143C>A	c.(1141-1143)ttC>ttA	p.F381L	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.F381L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	381	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCTTTGCAAGGAACTTGATCA	0.468000													20	98					1.40151e-16	1.48594e-16	0.592651	1	0
NSUN2	54888	broad.mit.edu	37	5	6632078	6632078	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:6632078C>G	ENST00000264670.6	-	3	578	c.267G>C	c.(265-267)gaG>gaC	p.E89D	NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Intron	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	89						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AATGGAGAATCTCTTTTGCGT	0.353000													58	244					0	0	0.870114	0	0
LHFP	10186	broad.mit.edu	37	13	40174981	40174981	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:40174981G>C	ENST00000379589.3	-	2	835	c.373C>G	c.(373-375)Cag>Gag	p.Q125E		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	125						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		CCAAGAAACTGAATTCCTCCA	0.483000			T	HMGA2	lipoma								30	76					0	0	0.717897	0	0
WWC1	23286	broad.mit.edu	37	5	167812224	167812224	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:167812224C>G	ENST00000265293.4	+	3	740	c.238C>G	c.(238-240)Cag>Gag	p.Q80E	WWC1_ENST00000521089.1_Missense_Mutation_p.Q80E	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	80	WW 2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGAAACCACTCAGATTGAGGA	0.507000													19	40					0	0	0.667858	0	0
RBM5	10181	broad.mit.edu	37	3	50145726	50145726	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:50145726C>G	ENST00000347869.3	+	14	1356	c.1181C>G	c.(1180-1182)tCa>tGa	p.S394*	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	394	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGATGCATCATCTGCATCA	0.373000													61	85					0	0	0.870114	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111927983	111927983	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:111927983C>T	ENST00000375741.2	+	13	1690	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V	ARHGEF7_ENST00000375723.1_Silent_p.V302V|ARHGEF7_ENST00000317133.5_Silent_p.V459V|ARHGEF7_ENST00000478679.1_Silent_p.V224V|ARHGEF7_ENST00000375736.4_Silent_p.V302V|ARHGEF7_ENST00000375739.2_Silent_p.V430V|ARHGEF7_ENST00000375737.5_Silent_p.V377V|ARHGEF7_ENST00000544132.1_Silent_p.V136V|ARHGEF7_ENST00000370623.3_Silent_p.V387V|ARHGEF7_ENST00000218789.5_Silent_p.V302V|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000426073.2_Silent_p.V302V	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	480	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGGGCAACGTCACTTACATGT	0.537000													4	216					0	0	0.184627	0	0
RAD23A	5886	broad.mit.edu	37	19	13060211	13060211	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:13060211C>G	ENST00000586534.1	+	7	863	c.802C>G	c.(802-804)Cag>Gag	p.Q268E	RAD23A_ENST00000541222.1_Missense_Mutation_p.Q103E|RAD23A_ENST00000316856.3_Missense_Mutation_p.Q267E|RAD23A_ENST00000592268.1_Missense_Mutation_p.Q268E|RAD23A_ENST00000588826.2_3'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	268					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GGAGAACCCTCAGCTTTTACA	0.612000								Nucleotide excision repair (NER)					35	128					0	0	0.769981	0	0
TENM2	57451	broad.mit.edu	37	5	167627019	167627019	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:167627019G>T	ENST00000519204.1	+	16	3068	c.2950G>T	c.(2950-2952)Gtc>Ttc	p.V984F	TENM2_ENST00000518659.1_Missense_Mutation_p.V1105F|TENM2_ENST00000520394.1_Missense_Mutation_p.V873F|TENM2_ENST00000545108.1_Missense_Mutation_p.V1105F|TENM2_ENST00000403607.2_Missense_Mutation_p.V929F					teneurin transmembrane protein 2																		GATGGTGGCTGTCGAGGGGCA	0.537000													18	64					1.02788e-11	1.07409e-11	0.520397	1	0
COBL	23242	broad.mit.edu	37	7	51095705	51095705	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:51095705G>C	ENST00000395542.2	-	12	3518	c.3334C>G	c.(3334-3336)Cag>Gag	p.Q1112E	COBL_ENST00000265136.7_Missense_Mutation_p.Q1030E			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1030	WH2 1.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGCAGGCCTGAGTGTCAGAT	0.622000													29	80					0	0	0.750413	0	0
SNW1	22938	broad.mit.edu	37	14	78184606	78184606	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:78184606G>C	ENST00000261531.7	-	14	1498	c.1436C>G	c.(1435-1437)tCt>tGt	p.S479C	SLIRP_ENST00000557623.1_Intron|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.S317C|SNW1_ENST00000555761.1_Missense_Mutation_p.L506V	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	479					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GTCTGAACCAGAAAACTCCTT	0.428000													9	445					0	0	0.335167	0	0
ZBTB48	3104	broad.mit.edu	37	1	6648384	6648384	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:6648384C>T	ENST00000377674.4	+	9	1721	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	521						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AAAGGCCCTTCAGTTGCGAGT	0.642000													26	58					0	0	0.740014	0	0
ZNF536	9745	broad.mit.edu	37	19	30936498	30936498	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:30936498G>A	ENST00000355537.3	+	2	2176	c.2029G>A	c.(2029-2031)Gac>Aac	p.D677N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	677					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTCGGGCAGTGACCAGGAGTC	0.706000													15	34					0	0	0.457914	0	0
KLRB1	3820	broad.mit.edu	37	12	9751250	9751250	+	Splice_Site	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:9751250C>G	ENST00000229402.3	-	4	306		c.e4-1			NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1						cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						CCCGGTCTCTCTAAAGTAAAA	0.378000													50	112					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9057827	9057827	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9057827G>C	ENST00000397910.4	-	3	29822	c.29619C>G	c.(29617-29619)ttC>ttG	p.F9873L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9875	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTCAATGAGAATGTTGGCT	0.483000													3	164					0	0	0.115264	0	0
DHX57	90957	broad.mit.edu	37	2	39053158	39053158	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:39053158C>G	ENST00000295373.6	-	16	2971	c.2845G>C	c.(2845-2847)Gag>Cag	p.E949Q		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	949	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAGGTGTCCTCTAGACTTTCC	0.408000													21	77					0	0	0.624587	0	0
ABCA1	19	broad.mit.edu	37	9	107578492	107578492	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:107578492C>T	ENST00000374736.3	-	25	4064	c.3670G>A	c.(3670-3672)Gag>Aag	p.E1224K		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1224					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCATCAATCTCATGAAAGAGT	0.493000													100	252					0	0	0.870114	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542513	133542513	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:133542513C>G	ENST00000409261.1	-	14	2244	c.1871G>C	c.(1870-1872)gGa>gCa	p.G624A	NCKAP5_ENST00000317721.6_Missense_Mutation_p.G624A|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	624							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAGAGATTTTCCAAACCCCAC	0.473000													18	76					0	0	0.539581	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10221527	10221527	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10221527G>A	ENST00000428358.1	+	11	1358	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	PPAN_ENST00000253107.7_Missense_Mutation_p.E396K|PPAN_ENST00000556468.1_Missense_Mutation_p.E396K|PPAN_ENST00000393793.1_Missense_Mutation_p.E343K|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E396K	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		396					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GGCGGTGGGCGAGGCGCCCAG	0.612000													57	210					0	0	0.870114	0	0
PPL	5493	broad.mit.edu	37	16	4940880	4940880	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4940880C>T	ENST00000345988.2	-	17	2100	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	PPL_ENST00000590782.2_Missense_Mutation_p.E669K	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	671					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCTCCACCTCACCCAGGAGG	0.677000													4	6					0	0	0.150653	0	0
FAM184A	79632	broad.mit.edu	37	6	119345573	119345573	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:119345573C>G	ENST00000338891.7	-	2	1008	c.565G>C	c.(565-567)Gac>Cac	p.D189H	FAM184A_ENST00000368475.4_Missense_Mutation_p.D69H|FAM184A_ENST00000352896.5_Missense_Mutation_p.D69H|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.D69H|FAM184A_ENST00000521531.1_Missense_Mutation_p.D189H	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	189										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTTGCAAGTCTTCCAATGCC	0.418000													46	198					0	0	0.870114	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498777	73498777	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:73498777C>T	ENST00000321617.3	-	18	2964	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R711Q	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	793	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGCTTAGGTCGAGGCGGGTC	0.716000													5	17					0	0	0.217242	0	0
DDX58	23586	broad.mit.edu	37	9	32500912	32500912	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:32500912C>A	ENST00000379883.2	-	2	289	c.132G>T	c.(130-132)gaG>gaT	p.E44D	DDX58_ENST00000379882.1_Intron|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000542096.1_5'UTR|DDX58_ENST00000379868.1_5'UTR	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	44	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGTTGTTTTTCTCAGCCTGAA	0.438000													8	95					0.00307968	0.0031305	0.278610	1	0
PPM1E	22843	broad.mit.edu	37	17	57058095	57058095	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:57058095C>G	ENST00000308249.2	+	7	2100	c.1971C>G	c.(1969-1971)ttC>ttG	p.F657L		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	666					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ATGAACAGTTCAAATCCCCGG	0.423000													92	283					0	0	0.870114	0	0
CNGB3	54714	broad.mit.edu	37	8	87616352	87616352	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:87616352G>C	ENST00000320005.5	-	15	1797	c.1750C>G	c.(1750-1752)Ctg>Gtg	p.L584V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	584					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCAGCTTTCAGAGTAACCAGA	0.368000													24	101					0	0	0.681144	0	0
WNK2	65268	broad.mit.edu	37	9	96055302	96055302	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:96055302C>T	ENST00000297954.4	+	23	5666	c.5666C>T	c.(5665-5667)tCg>tTg	p.S1889L	WNK2_ENST00000427277.2_Missense_Mutation_p.S1464L|WNK2_ENST00000356055.3_Splice_Site_p.S214_splice|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.S1852L|WNK2_ENST00000349097.3_Missense_Mutation_p.S1501L			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1889					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CGGGCCGGCTCGCTGGGCCCC	0.652000													19	28					0	0	0.592651	0	0
TLE4	7091	broad.mit.edu	37	9	82323642	82323642	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:82323642C>G	ENST00000376520.4	+	14	2128	c.1300C>G	c.(1300-1302)Cag>Gag	p.Q434E	TLE4_ENST00000376544.3_Missense_Mutation_p.Q333E|TLE4_ENST00000376552.2_Missense_Mutation_p.Q402E|TLE4_ENST00000265284.6_Missense_Mutation_p.Q377E|TLE4_ENST00000376534.4_Missense_Mutation_p.Q39E|TLE4_ENST00000376537.4_Missense_Mutation_p.Q434E			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATCTCCCCTCAGATGAGCGC	0.572000													19	41					0	0	0.557998	0	0
PLP1	5354	broad.mit.edu	37	X	103041593	103041593	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:103041593C>G	ENST00000418604.1	+	4	671	c.391C>G	c.(391-393)Caa>Gaa	p.Q131E	PLP1_ENST00000303958.2_Missense_Mutation_p.Q131E|PLP1_ENST00000361621.2_Intron	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	131			Missing (in HLD1).		cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGGCCAACATCAAGCTCATTC	0.542000													89	87					0	0	0.870114	0	0
MYH10	4628	broad.mit.edu	37	17	8457276	8457276	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8457276T>C	ENST00000360416.3	-	8	955	c.817A>G	c.(817-819)Aca>Gca	p.T273A	MYH10_ENST00000269243.4_Missense_Mutation_p.T263A|MYH10_ENST00000396239.1_Missense_Mutation_p.T263A|MYH10_ENST00000379980.4_Missense_Mutation_p.T279A	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	263	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGGATACATGTTTCAATGTTG	0.338000													105	96					0	0	0.870114	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803537	142803537	+	RNA	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:142803537G>T	ENST00000423385.1	-	0	1428																											AATAGATGTTGGAATTCCTGA	0.274000													4	214					0.00024832	0.000254306	0.150653	1	0
LRP1	4035	broad.mit.edu	37	12	57601825	57601825	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:57601825C>T	ENST00000243077.3	+	77	12330	c.11864C>T	c.(11863-11865)tCa>tTa	p.S3955L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3955					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATTCAGATTTCAGGGCTGAAG	0.602000													13	27					0	0	0.411799	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512724	70512724	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:70512724G>C	ENST00000503640.1	-	1	694	c.639C>G	c.(637-639)ttC>ttG	p.F213L	UGT2A1_ENST00000514019.1_Missense_Mutation_p.F213L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.F213L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.F213L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	213					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGTAGGAGATGAAATTTCTTA	0.368000													35	124					0	0	0.804634	0	0
SCN11A	11280	broad.mit.edu	37	3	38888746	38888746	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:38888746C>A	ENST00000450244.1	-	26	5013	c.4815G>T	c.(4813-4815)gaG>gaT	p.E1605D	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1567D|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1605D			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1605					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TATTGAAGTTCTCTAAAATCA	0.408000													5	164					0.184627	0.186291	0.184627	1	0
PEG10	23089	broad.mit.edu	37	7	94293385	94293385	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:94293385C>T	ENST00000482108.1	+	2	996	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	PEG10_ENST00000488574.1_Missense_Mutation_p.R173C	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	173	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.R173C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAGATCAGACGCCTGCGCCA	0.527000													61	229					0	0	0.870114	0	0
CILP	8483	broad.mit.edu	37	15	65489713	65489713	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:65489713G>A	ENST00000261883.4	-	9	3077	c.2911C>T	c.(2911-2913)Cgc>Tgc	p.R971C		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	971					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCCATGTTGCGGGATCGCACA	0.562000													31	122					0	0	0.729181	0	0
CFTR	1080	broad.mit.edu	37	7	117243763	117243763	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:117243763G>A	ENST00000003084.6	+	17	2967	c.2835G>A	c.(2833-2835)tcG>tcA	p.S945S	CFTR_ENST00000454343.1_Silent_p.S884S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	945	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.S945S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCACAGTGTCGAAAATTTTAC	0.398000									Cystic Fibrosis				49	118					0	0	0.870114	0	0
SIK3	23387	broad.mit.edu	37	11	116730264	116730264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:116730264G>A	ENST00000375300.1	-	19	2343	c.2338C>T	c.(2338-2340)Cag>Tag	p.Q780*	SIK3_ENST00000434315.2_Nonsense_Mutation_p.Q621*|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Nonsense_Mutation_p.Q722*|SIK3_ENST00000375288.1_Nonsense_Mutation_p.Q117*|SIK3_ENST00000292055.4_Nonsense_Mutation_p.Q722*|SIK3_ENST00000446921.2_Nonsense_Mutation_p.Q780*			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	722	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCAGGTTGCTGCTGAAAGATT	0.552000											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	29	104					0	0	0.740014	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499237	34499237	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:34499237G>A	ENST00000454519.3	-	7	623	c.474C>T	c.(472-474)ttC>ttT	p.F158F	TBC1D3B_ENST00000398801.3_Silent_p.F158F|CTB-91J4.1_ENST00000592460.1_RNA	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	158	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GATCCCTGAAGAACATATGCT	0.567000													55	734					0	0	0.870114	0	0
CTTN	2017	broad.mit.edu	37	11	70253636	70253636	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:70253636G>A	ENST00000301843.8	+	4	306	c.100G>A	c.(100-102)Gag>Aag	p.E34K	CTTN_ENST00000376561.3_Missense_Mutation_p.E34K|CTTN_ENST00000527622.1_3'UTR|CTTN_ENST00000346329.3_Missense_Mutation_p.E34K	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	34						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGATGTGAGTGAGAAGGAGCA	0.552000													34	135					0	0	0.812448	0	0
MRAP	56246	broad.mit.edu	37	21	33671366	33671366	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:33671366G>A	ENST00000399784.2	+	3	271	c.84G>A	c.(82-84)gaG>gaA	p.E28E	MRAP_ENST00000399786.3_Silent_p.E28E|MRAP_ENST00000303645.5_Silent_p.E28E|MRAP_ENST00000339944.4_Silent_p.E28E|MRAP_ENST00000497833.1_Intron	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	28					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						CCGTGGACGAGAAGAAGCTGA	0.577000													16	26					0	0	0.539581	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119236098	119236098	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:119236098G>C	ENST00000494664.1	+	6	845	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	TIMMDC1_ENST00000493694.1_Missense_Mutation_p.E81Q	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	215						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						GTACTCTGGTGAGACTGTTCA	0.468000													6	188					0	0	0.248553	0	0
HIPK1	204851	broad.mit.edu	37	1	114483834	114483834	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:114483834G>C	ENST00000369558.1	+	2	1061	c.829G>C	c.(829-831)Gat>Cat	p.D277H	HIPK1_ENST00000369559.4_Missense_Mutation_p.D277H|HIPK1_ENST00000369561.4_Missense_Mutation_p.D277H|HIPK1_ENST00000426820.2_Missense_Mutation_p.D277H|HIPK1_ENST00000369554.2_Missense_Mutation_p.D277H|HIPK1_ENST00000369555.2_Missense_Mutation_p.D277H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	277	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)		GAACTTATATGATTTTCTAAA	0.408000													33	61					0	0	0.760397	0	0
VPS13B	157680	broad.mit.edu	37	8	100654191	100654191	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:100654191G>T	ENST00000358544.2	+	34	5559	c.5448G>T	c.(5446-5448)caG>caT	p.Q1816H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q1791H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1816					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTGCCAGTCAGCATCGCATTG	0.413000													25	152					1.68575e-08	1.74819e-08	0.717897	1	0
CD180	4064	broad.mit.edu	37	5	66479408	66479408	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:66479408C>G	ENST00000256447.4	-	3	1420	c.1263G>C	c.(1261-1263)caG>caC	p.Q421H		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	421					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGAGTTCTAGCTGAGGACATT	0.458000													78	221					0	0	0.870114	0	0
ATP2C1	27032	broad.mit.edu	37	3	130686024	130686024	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:130686024G>C	ENST00000510168.1	+	15	1708	c.1158G>C	c.(1156-1158)gtG>gtC	p.V386V	ATP2C1_ENST00000359644.3_Silent_p.V386V|ATP2C1_ENST00000507488.2_Silent_p.V370V|ATP2C1_ENST00000428331.2_Silent_p.V386V|ATP2C1_ENST00000504948.1_Silent_p.V370V|ATP2C1_ENST00000504381.1_Silent_p.V331V|ATP2C1_ENST00000505330.1_Silent_p.V370V|ATP2C1_ENST00000422190.2_Silent_p.V386V|ATP2C1_ENST00000328560.8_Silent_p.V386V|ATP2C1_ENST00000508532.1_Silent_p.V386V|ATP2C1_ENST00000393221.4_Silent_p.V420V|ATP2C1_ENST00000513801.1_Silent_p.V370V|ATP2C1_ENST00000533801.2_Silent_p.V381V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	386					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTGGGGAAGTGATTGTTGATG	0.358000									Hailey-Hailey disease				99	495					0	0	0.870114	0	0
KRT33A	3883	broad.mit.edu	37	17	39503388	39503388	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:39503388C>G	ENST00000007735.3	-	4	719	c.675G>C	c.(673-675)ctG>ctC	p.L225L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	225	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGGTCTCATTCAGGACCTGGT	0.597000													32	75					0	0	0.740014	0	0
PKHD1	5314	broad.mit.edu	37	6	51938280	51938280	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:51938280C>T	ENST00000371117.3	-	7	783	c.508G>A	c.(508-510)Gat>Aat	p.D170N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D170N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	170	IPT/TIG 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TACTCAGCATCAAAATCAAAA	0.358000													83	144					0	0	0.870114	0	0
AP2B1	163	broad.mit.edu	37	17	33951593	33951593	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:33951593C>T	ENST00000262325.7	+	6	1256	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	AP2B1_ENST00000312678.8_Missense_Mutation_p.R235W|AP2B1_ENST00000537622.2_Missense_Mutation_p.R235W|AP2B1_ENST00000589344.1_Missense_Mutation_p.R235W|AP2B1_ENST00000592545.1_Missense_Mutation_p.R197W|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000538556.1_Missense_Mutation_p.R178W	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	235					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TAAAGATGATCGGGAGGCTCA	0.448000													28	99					0	0	0.769981	0	0
FER1L6	654463	broad.mit.edu	37	8	125131944	125131944	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:125131944C>G	ENST00000522917.1	+	41	5693	c.5487C>G	c.(5485-5487)ttC>ttG	p.F1829L	FER1L6_ENST00000399018.1_Missense_Mutation_p.F1829L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1829						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			tcattgctttcattctcatca	0.478000													62	270					0	0	0.870114	0	0
CES5A	221223	broad.mit.edu	37	16	55899899	55899899	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:55899899C>T	ENST00000521992.1	-	6	913	c.768G>A	c.(766-768)gcG>gcA	p.A256A	CES5A_ENST00000319165.9_Silent_p.A227A|CES5A_ENST00000290567.9_Silent_p.A227A|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Silent_p.A197A|CES5A_ENST00000518005.1_Silent_p.A121A	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	227						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTATGGCTCCCGCGGACTCGC	0.512000													12	38					0	0	0.435327	0	0
ZNF829	374899	broad.mit.edu	37	19	37383092	37383092	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:37383092G>A	ENST00000520965.1	-	6	910	c.844C>T	c.(844-846)Cga>Tga	p.R282*	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Nonsense_Mutation_p.R201*	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTGATGTCGAGTAACGAGT	0.373000													23	101					0	0	0.624587	0	0
CDC27	996	broad.mit.edu	37	17	45214545	45214545	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45214545C>T	ENST00000066544.3	-	14	1979	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K	CDC27_ENST00000527547.1_Missense_Mutation_p.R628K|CDC27_ENST00000531206.1_Missense_Mutation_p.R635K|CDC27_ENST00000446365.2_Missense_Mutation_p.R568K	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	629					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGGATTGACTCTGATAGCATT	0.348000													11	50					0	0	0.387290	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456015	5456015	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:5456015G>A	ENST00000222033.4	+	1	590	c.513G>A	c.(511-513)aaG>aaA	p.K171K		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	171	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)		TCGACCTCAAGGTGCTGAACG	0.667000													19	62					0	0	0.706142	0	0
SRRM2	23524	broad.mit.edu	37	16	2814163	2814163	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2814163G>C	ENST00000301740.8	+	11	4183	c.3634G>C	c.(3634-3636)Gaa>Caa	p.E1212Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1212	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCGCCAAGGGAAAGAAGTGG	0.453000													68	150					0	0	0.870114	0	0
HTR3C	170572	broad.mit.edu	37	3	183777427	183777427	+	Splice_Site	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183777427C>T	ENST00000318351.1	+	7	958	c.925_splice	c.e7+1	p.I308_splice		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	308						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCCCCCTCATCAGTATGGCTC	0.587000													47	353					0	0	0.870114	0	0
BTNL8	79908	broad.mit.edu	37	5	180338384	180338384	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:180338384G>C	ENST00000231229.4	+	3	677	c.443G>C	c.(442-444)aGa>aCa	p.R148T	BTNL8_ENST00000400707.3_Missense_Mutation_p.R23T|BTNL8_ENST00000340184.4_Missense_Mutation_p.R148T|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.R32T|BTNL8_ENST00000508408.1_Missense_Mutation_p.R148T|BTNL8_ENST00000505126.1_5'UTR	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	148	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATGTTGATAGAGACATCCAG	0.537000													144	412					0	0	0.870114	0	0
USP44	84101	broad.mit.edu	37	12	95927813	95927813	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:95927813C>T	ENST00000258499.3	-	2	508	c.220G>A	c.(220-222)Gag>Aag	p.E74K	USP44_ENST00000537435.2_Missense_Mutation_p.E74K|USP44_ENST00000552440.1_Missense_Mutation_p.E74K|USP44_ENST00000393091.2_Missense_Mutation_p.E74K	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	74					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ACGTACATCTCATTCACCTCC	0.408000											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	82					0	0	0.750413	0	0
ERCC5	2073	broad.mit.edu	37	13	103514472	103514472	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:103514472C>G	ENST00000355739.4	+	8	2396	c.973C>G	c.(973-975)Cca>Gca	p.P325A	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.S750C	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAAGTCATCTCCATGTGAAAA	0.453000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	291					0	0	0.150653	0	0
PCNX	22990	broad.mit.edu	37	14	71428976	71428976	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:71428976C>A	ENST00000304743.2	+	3	842	c.396C>A	c.(394-396)ttC>ttA	p.F132L	PCNX_ENST00000238570.5_Missense_Mutation_p.F132L|PCNX_ENST00000439984.3_Missense_Mutation_p.F132L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	132						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGTCTGAGTTCATCCGAGAGG	0.443000													6	469					0.00307968	0.0031305	0.278610	1	0
CASC1	55259	broad.mit.edu	37	12	25267694	25267694	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:25267694G>C	ENST00000354189.5	-	13	1716	c.1681C>G	c.(1681-1683)Cat>Gat	p.H561D	CASC1_ENST00000545133.1_Missense_Mutation_p.H438D|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.H503D|CASC1_ENST00000395990.2_Missense_Mutation_p.H457D|CASC1_ENST00000320267.9_Missense_Mutation_p.H497D|CASC1_ENST00000537577.1_Missense_Mutation_p.H385D	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	497										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATGTTAATATGAGCATCTTGA	0.378000													41	112					0	0	0.834066	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072312	63072312	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:63072312G>C	ENST00000332793.6	+	9	1551	c.1549G>C	c.(1549-1551)Gaa>Caa	p.E517Q	SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	517						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTCCTACCAGAAACCAAGAA	0.433000													51	208					0	0	0.870114	0	0
C19orf12	83636	broad.mit.edu	37	19	30193787	30193787	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:30193787C>G	ENST00000323670.9	-	3	397	c.258G>C	c.(256-258)caG>caC	p.Q86H	C19orf12_ENST00000392276.1_Missense_Mutation_p.Q22H|C19orf12_ENST00000592153.1_Missense_Mutation_p.Q86H|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392278.2_Missense_Mutation_p.Q97H	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	86						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			TAAAGAGCCTCTGTTGCTCGG	0.632000													6	144					0	0	0.278610	0	0
ZNF594	84622	broad.mit.edu	37	17	5087056	5087056	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:5087056G>C	ENST00000399604.4	-	1	636	c.496C>G	c.(496-498)Caa>Gaa	p.Q166E	ZNF594_ENST00000575779.1_Missense_Mutation_p.Q166E			Q96JF6	ZN594_HUMAN	zinc finger protein 594	166			Q -> H (in dbSNP:rs59197486).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTGAACTTTGATTAGAGTCT	0.338000													29	131					0	0	0.729181	0	0
FBXO16	157574	broad.mit.edu	37	8	28321304	28321304	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:28321304C>G	ENST00000380254.2	-	4	315	c.167G>C	c.(166-168)aGa>aCa	p.R56T	FBXO16_ENST00000518734.1_Missense_Mutation_p.R44T|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000346498.2_Missense_Mutation_p.R44T	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	56										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TGTGAGGATTCTTCTTCTTTG	0.438000													20	69					0	0	0.575678	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110397821	110397821	+	Silent	SNP	T	T	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:110397821T>A	ENST00000378402.5	+	6	635	c.531T>A	c.(529-531)atT>atA	p.I177I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	177	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAGTAATATTGCACTAAGCT	0.294000										HNSCC(38;0.096)			12	81					0	0	0.457914	0	0
KCNH3	23416	broad.mit.edu	37	12	49942877	49942877	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:49942877C>T	ENST00000257981.6	+	8	1649	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	463					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TCAGCAGCCTCACCAGCGTGG	0.682000													19	43					0	0	0.608945	0	0
CSNK1E	1454	broad.mit.edu	37	22	38696026	38696026	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:38696026T>G	ENST00000396832.1	-	6	870	c.610A>C	c.(610-612)Atg>Ctg	p.M204L	CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000413574.2_Missense_Mutation_p.M204L|CSNK1E_ENST00000405675.3_Missense_Mutation_p.M204L|CSNK1E_ENST00000400206.2_Missense_Mutation_p.M204L|CSNK1E_ENST00000359867.3_Missense_Mutation_p.M204L|CSNK1E_ENST00000403904.1_Missense_Mutation_p.M204L	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	204	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					TTGAAGTACATGAGCACGTAG	0.577000													27	87					0	0	0.706142	0	0
GPAT2	150763	broad.mit.edu	37	2	96690561	96690561	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:96690561G>T	ENST00000434632.1	-	15	1847	c.1388C>A	c.(1387-1389)aCg>aAg	p.T463K	GPAT2_ENST00000453542.1_Missense_Mutation_p.T392K|GPAT2_ENST00000359548.4_Missense_Mutation_p.T463K|GPAT2_ENST00000377137.3_Missense_Mutation_p.T463K			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	463					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CATAATGGCCGTGCTCATCAC	0.642000													63	209					1.72039e-30	1.85435e-30	0.870114	1	0
TTC7B	145567	broad.mit.edu	37	14	91123528	91123528	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:91123528G>A	ENST00000357056.2	-	11	1452	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	TTC7B_ENST00000328459.6_Missense_Mutation_p.S444F			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	444							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CCAGTGCAGGGAGCCCATGCA	0.622000													97	65					0	0	0.870114	0	0
PLSCR2	57047	broad.mit.edu	37	3	146173093	146173093	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:146173093C>T	ENST00000497985.1	-	6	912	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	PLSCR2_ENST00000336685.2_Missense_Mutation_p.R85Q	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	85					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TATGACTTCTCGACCCACATT	0.418000													47	242					0	0	0.870114	0	0
RRM1	6240	broad.mit.edu	37	11	4132854	4132854	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:4132854G>T	ENST00000300738.5	+	6	675	c.471G>T	c.(469-471)ttG>ttT	p.L157F	RRM1_ENST00000423050.2_Missense_Mutation_p.L60F	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	157					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CTTATTTGTTGAAGATCAATG	0.328000													29	77					4.3181e-19	4.59404e-19	0.769981	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080763	57080763	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:57080763C>G	ENST00000532437.1	-	4	1710	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E467Q			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	467	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAGTTGGACTCTGCCCCAAAG	0.672000													21	42					0	0	0.608945	0	0
ZNF471	57573	broad.mit.edu	37	19	57037129	57037129	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:57037129C>T	ENST00000308031.5	+	5	1826	c.1693C>T	c.(1693-1695)Cat>Tat	p.H565Y	ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TCAAAGAATTCATACTGGAGA	0.423000													30	86					0	0	0.717897	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959148	10959148	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10959148G>C	ENST00000240615.2	-	1	744	c.432C>G	c.(430-432)gtC>gtG	p.V144V		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	144					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTATAAGGCTGACCAACAAGG	0.403000													21	87					0	0	0.575678	0	0
OR2J3	442186	broad.mit.edu	37	6	29080281	29080281	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:29080281C>G	ENST00000377169.1	+	1	614	c.614C>G	c.(613-615)aCa>aGa	p.T205R		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTCATGATCACAAGCTCCATA	0.468000													60	38					0	0	0.870114	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541612	133541612	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:133541612C>T	ENST00000409261.1	-	14	3145	c.2772G>A	c.(2770-2772)gtG>gtA	p.V924V	NCKAP5_ENST00000317721.6_Silent_p.V924V|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	924							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGGGGATTTCACCCCTGCCT	0.622000													21	38					0	0	0.592651	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71509489	71509489	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:71509489G>A	ENST00000265382.3	+	8	1011	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.E236K	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	236	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	p.E236K(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGACATGCACGAAGGGTTGTA	0.423000													44	135					0	0	0.870114	0	0
PRKDC	5591	broad.mit.edu	37	8	48776002	48776002	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:48776002G>A	ENST00000314191.2	-	43	5761	c.5705C>T	c.(5704-5706)tCg>tTg	p.S1902L	PRKDC_ENST00000338368.3_Missense_Mutation_p.S1902L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1903					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTAATACACGAGCCATGGAA	0.313000								Non-homologous end-joining					44	170					0	0	0.870114	0	0
TMPO	7112	broad.mit.edu	37	12	98926775	98926775	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:98926775C>G	ENST00000266732.4	+	4	978	c.740C>G	c.(739-741)tCt>tGt	p.S247C	TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTACATACTTCTAAGGGAGAC	0.468000													4	174					0	0	0.184627	0	0
FRMD6	122786	broad.mit.edu	37	14	52182162	52182162	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:52182162C>G	ENST00000395718.2	+	10	1230	c.945C>G	c.(943-945)ctC>ctG	p.L315L	FRMD6_ENST00000554167.1_Silent_p.L246L|FRMD6_ENST00000344768.5_Silent_p.L323L|FRMD6_ENST00000356218.4_Silent_p.L315L	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	323	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GCCACCGCCTCTATATGAATC	0.557000													52	29					0	0	0.870114	0	0
SLC26A5	375611	broad.mit.edu	37	7	103014907	103014907	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:103014907G>A	ENST00000306312.3	-	20	2435	c.2174C>T	c.(2173-2175)tCg>tTg	p.S725L	SLC26A5_ENST00000393723.1_Missense_Mutation_p.S695L|SLC26A5_ENST00000432958.2_Missense_Mutation_p.S693L|SLC26A5_ENST00000354356.4_Missense_Mutation_p.S158L|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.S693L|SLC26A5_ENST00000393729.1_Missense_Mutation_p.S688L|SLC26A5_ENST00000393727.1_Missense_Mutation_p.S727L|SLC26A5_ENST00000393735.2_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	725					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						AGGGGGAGCCGAGGCTTCCTG	0.532000													26	68					0	0	0.654019	0	0
TRIT1	54802	broad.mit.edu	37	1	40313713	40313713	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:40313713C>T	ENST00000316891.5	-	6	774	c.760G>A	c.(760-762)Gag>Aag	p.E254K	TRIT1_ENST00000441669.2_Missense_Mutation_p.E172K|TRIT1_ENST00000372818.1_Missense_Mutation_p.E254K|TRIT1_ENST00000545233.1_Missense_Mutation_p.E8K|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000537223.1_5'UTR|TRIT1_ENST00000491865.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	254	Interaction with isopentenylpyrophosphate transferase (By similarity).				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTAGTTCCTCCAAGAGCCCA	0.428000													35	137					0	0	0.804634	0	0
FAT4	79633	broad.mit.edu	37	4	126411784	126411784	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:126411784G>C	ENST00000394329.3	+	17	13820	c.13807G>C	c.(13807-13809)Gaa>Caa	p.E4603Q	FAT4_ENST00000335110.5_Missense_Mutation_p.E2844Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4603					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCACAACTCAGAAACCATCCC	0.493000													23	74					0	0	0.608945	0	0
FGF20	26281	broad.mit.edu	37	8	16850803	16850803	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:16850803G>T	ENST00000180166.5	-	3	562	c.414C>A	c.(412-414)atC>atA	p.I138I		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	138					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTCCCTAAAGATGCATTCGG	0.333000													45	215					2.77807e-22	2.96584e-22	0.864702	1	0
ESCO1	114799	broad.mit.edu	37	18	19153502	19153502	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:19153502G>C	ENST00000269214.5	-	4	2240	c.1303C>G	c.(1303-1305)Caa>Gaa	p.Q435E		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	435					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AACGTACTTTGAGTCACTGGA	0.348000													39	159					0	0	0.819951	0	0
OR5L1	219437	broad.mit.edu	37	11	55579557	55579557	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55579557G>A	ENST00000333973.2	+	1	704	c.615G>A	c.(613-615)ttG>ttA	p.L205L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGCCACTTTGAATGAGAGTG	0.468000													71	229					0	0	0.870114	0	0
AKAP6	9472	broad.mit.edu	37	14	33290655	33290655	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:33290655G>A	ENST00000280979.4	+	13	3806	c.3636G>A	c.(3634-3636)atG>atA	p.M1212I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1212					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAAATGGGATGAGTGAGGATG	0.393000													107	88					0	0	0.870114	0	0
AGXT2	64902	broad.mit.edu	37	5	35010167	35010167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:35010167C>A	ENST00000231420.6	-	12	1476	c.1276G>T	c.(1276-1278)Gaa>Taa	p.E426*		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	426					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CCAACAATTTCAAATTCATCC	0.428000													43	184					8.20599e-20	8.74548e-20	0.859065	1	0
PDZRN4	29951	broad.mit.edu	37	12	41966788	41966788	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:41966788C>T	ENST00000298919.7	+	10	1815	c.1427C>T	c.(1426-1428)tCt>tTt	p.S476F	PDZRN4_ENST00000402685.2_Missense_Mutation_p.S736F|PDZRN4_ENST00000539469.2_Missense_Mutation_p.S478F			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	736	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGGACAGTTCTAGTGCTTAC	0.473000													35	115					0	0	0.812448	0	0
AKAP3	10566	broad.mit.edu	37	12	4737844	4737844	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:4737844C>G	ENST00000545990.2	-	5	748	c.224G>C	c.(223-225)gGa>gCa	p.G75A	AKAP3_ENST00000228850.1_Missense_Mutation_p.G75A	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	75					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTGTGGGTCTCCTGAGTTGGA	0.488000													46	92					0	0	0.859065	0	0
NUP155	9631	broad.mit.edu	37	5	37302930	37302930	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:37302930G>C	ENST00000231498.3	-	29	3601	c.3398C>G	c.(3397-3399)tCa>tGa	p.S1133*	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Nonsense_Mutation_p.S1074*|NUP155_ENST00000513532.1_Nonsense_Mutation_p.S1069*	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1133					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCAGCTATTGATGAAATGGC	0.408000													51	212					0	0	0.870114	0	0
PRR16	51334	broad.mit.edu	37	5	120021840	120021840	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:120021840G>A	ENST00000379551.2	+	3	639	c.282G>A	c.(280-282)ctG>ctA	p.L94L	PRR16_ENST00000505123.1_Silent_p.L47L|PRR16_ENST00000446965.1_Silent_p.L47L|PRR16_ENST00000407149.2_Silent_p.L117L	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	117										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCACGGTCCTGAGAAAGCCAA	0.522000													45	91					0	0	0.864702	0	0
CELF6	60677	broad.mit.edu	37	15	72582346	72582346	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:72582346C>T	ENST00000287202.5	-	5	791	c.537G>A	c.(535-537)gtG>gtA	p.V179V	CELF6_ENST00000539635.1_Silent_p.V40V|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Silent_p.V179V|CELF6_ENST00000543764.2_Silent_p.V64V|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000395258.2_Silent_p.V66V	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	179	RRM 2.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						TCCCGAACTTCACAAAGGCAC	0.657000													5	17					0	0	0.184627	0	0
SLC4A8	9498	broad.mit.edu	37	12	51890879	51890879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:51890879G>A	ENST00000453097.2	+	22	3269	c.3052G>A	c.(3052-3054)Gat>Aat	p.D1018N	SLC4A8_ENST00000358657.3_Missense_Mutation_p.D1045N	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	1018					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAAGTTGGATGATGCCAAAAA	0.453000													32	118					0	0	0.769981	0	0
PGM2L1	283209	broad.mit.edu	37	11	74053568	74053568	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:74053568C>G	ENST00000298198.4	-	12	1881	c.1570G>C	c.(1570-1572)Gct>Cct	p.A524P		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	524					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TGCAATATAGCAAATGTTCCA	0.323000													4	199					0	0	0.150653	0	0
PDE4B	5142	broad.mit.edu	37	1	66838008	66838008	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:66838008G>A	ENST00000423207.2	+	15	2298	c.1813G>A	c.(1813-1815)Gac>Aac	p.D605N	PDE4B_ENST00000329654.4_Missense_Mutation_p.D620N|PDE4B_ENST00000371045.5_Missense_Mutation_p.D448N|PDE4B_ENST00000480109.2_Missense_Mutation_p.D387N|PDE4B_ENST00000371049.3_Missense_Mutation_p.D620N	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	620					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGGTTTCATCGACTACATTGT	0.413000													56	164					0	0	0.870114	0	0
MED23	9439	broad.mit.edu	37	6	131931197	131931197	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:131931197G>A	ENST00000403834.3	-	11	1257	c.1084C>T	c.(1084-1086)Ctt>Ttt	p.L362F	MED23_ENST00000368068.3_Missense_Mutation_p.L356F|MED23_ENST00000368060.3_Missense_Mutation_p.L356F|MED23_ENST00000354577.4_Missense_Mutation_p.L362F|MED23_ENST00000368058.1_Missense_Mutation_p.L362F|MED23_ENST00000545957.1_Missense_Mutation_p.L45F|MED23_ENST00000368053.4_Missense_Mutation_p.L362F|MED23_ENST00000540546.1_Missense_Mutation_p.L362F|MED23_ENST00000539158.1_Missense_Mutation_p.L356F			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	356					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTCTGATGAAGAGAAAGCACC	0.428000													30	79					0	0	0.729181	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17961342	17961342	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:17961342G>C	ENST00000361221.3	+	18	1917	c.1758G>C	c.(1756-1758)gaG>gaC	p.E586D	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.E359D|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E581D|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.E344D|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E547D|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E547D|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.E289D	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	586					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCAGCTGGAGATCAGCAGCC	0.672000													11	21					0	0	0.361761	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262467	7262467	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:7262467C>T	ENST00000361972.4	-	11	1326	c.1236G>A	c.(1234-1236)atG>atA	p.M412I	SFMBT2_ENST00000397167.1_Missense_Mutation_p.M412I	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	412					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTTCAAGTTTCATGTTCTTTG	0.517000													62	116					0	0	0.870114	0	0
CD1C	911	broad.mit.edu	37	1	158262651	158262651	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:158262651C>T	ENST00000368170.3	+	4	1155	c.876C>T	c.(874-876)atC>atT	p.I292I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	292	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCCAGGACATCATCCTCTACT	0.527000													12	45					0	0	0.435327	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184876	118184876	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:118184876G>C	ENST00000427715.2	+	11	1353	c.919G>C	c.(919-921)Gac>Cac	p.D307H	SLC30A8_ENST00000519688.1_Missense_Mutation_p.D307H|SLC30A8_ENST00000456015.2_Missense_Mutation_p.D356H|SLC30A8_ENST00000521243.1_Missense_Mutation_p.D307H	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	356					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATCTCCAGTTGACCAGGACCC	0.507000													37	232					0	0	0.812448	0	0
FLG	2312	broad.mit.edu	37	1	152281432	152281432	+	Nonsense_Mutation	SNP	G	G	C	rs140980397		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152281432G>C	ENST00000368799.1	-	3	5965	c.5930C>G	c.(5929-5931)tCa>tGa	p.S1977*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1977	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)			ACGAGTGCCTGATTGTCTGGA	0.572000									Ichthyosis				278	517					0	0	0.870114	0	0
LGALS9B	284194	broad.mit.edu	37	17	20354855	20354855	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:20354855C>A	ENST00000423676.3	-	10	926	c.863G>T	c.(862-864)tGg>tTg	p.W288L	LGALS9B_ENST00000324290.5_Missense_Mutation_p.W287L			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	288	Beta-galactoside binding 2 (By similarity).|Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTCAGACCCCCAAGAGTTGTT	0.572000													20	53					4.3181e-19	4.59404e-19	0.769981	1	0
CSMD3	114788	broad.mit.edu	37	8	113421233	113421233	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:113421233C>T	ENST00000297405.5	-	33	5668	c.5424G>A	c.(5422-5424)caG>caA	p.Q1808Q	CSMD3_ENST00000343508.3_Silent_p.Q1768Q|CSMD3_ENST00000455883.2_Silent_p.Q1704Q|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1808	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGAGTGATGTCTGGAAAAATA	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			70	180					0	0	0.870114	0	0
C1orf51	148523	broad.mit.edu	37	1	150259239	150259239	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:150259239C>T	ENST00000290363.5	+	5	1480	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	C1orf51_ENST00000369094.1_Missense_Mutation_p.S256L|C1orf51_ENST00000369095.1_Missense_Mutation_p.S344L	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	344										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCTGCCATCAGACTGGAGC	0.542000													56	117					0	0	0.870114	0	0
IFNGR1	3459	broad.mit.edu	37	6	137525504	137525504	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:137525504C>T	ENST00000367739.4	-	4	632	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	IFNGR1_ENST00000543628.1_Missense_Mutation_p.V143M|IFNGR1_ENST00000367735.2_Missense_Mutation_p.V161M	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	171					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ACATTGTACACCCTAATGTAA	0.378000													49	191					0	0	0.870114	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672179	39672179	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:39672179G>C	ENST00000398930.1	+	4	1350	c.996G>C	c.(994-996)caG>caC	p.Q332H	KCNJ15_ENST00000398938.2_Missense_Mutation_p.Q332H|KCNJ15_ENST00000398934.1_Missense_Mutation_p.Q332H|KCNJ15_ENST00000398932.1_Missense_Mutation_p.Q332H|KCNJ15_ENST00000328656.3_Missense_Mutation_p.Q332H			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	332					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						AGTTTGAACAGATTCGGAAAA	0.433000													31	105					0	0	0.750413	0	0
N4BP1	9683	broad.mit.edu	37	16	48596001	48596001	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:48596001C>G	ENST00000262384.3	-	2	789	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	185					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GTCAAAAGTTCTTTTTTCAAG	0.368000													19	74					0	0	0.539581	0	0
TMCC2	9911	broad.mit.edu	37	1	205210816	205210816	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:205210816C>T	ENST00000358024.3	+	2	780	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.R53C	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	131						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGATGCATCGCGTCTCCTA	0.657000													25	27					0	0	0.706142	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68043190	68043190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:68043190G>T	ENST00000329153.5	+	17	2563	c.2431G>T	c.(2431-2433)Gga>Tga	p.G811*		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	811						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCAGCTCATTGGAAAACTGAT	0.562000													49	39					3.7052e-28	3.97631e-28	0.864702	1	0
UBR5	51366	broad.mit.edu	37	8	103289202	103289202	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:103289202G>A	ENST00000520539.1	-	45	7113	c.6507C>T	c.(6505-6507)ttC>ttT	p.F2169F	UBR5_ENST00000521922.1_Silent_p.F2163F|UBR5_ENST00000220959.4_Silent_p.F2169F	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2169					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)			GCAAATACCTGAAAGATGTGA	0.383000													36	129					0	0	0.779181	0	0
CLDN23	137075	broad.mit.edu	37	8	8560295	8560295	+	Silent	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:8560295C>A	ENST00000519106.1	+	1	848	c.387C>A	c.(385-387)ctC>ctA	p.L129L		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	129					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		TCCTCGGCCTCATCCCGGTGT	0.701000													12	18					4.3838e-07	4.52332e-07	0.435327	1	0
MUC16	94025	broad.mit.edu	37	19	9062946	9062946	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9062946G>C	ENST00000397910.4	-	3	24703	c.24500C>G	c.(24499-24501)tCa>tGa	p.S8167*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8169	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCAAAGCCTGAGATGGATGT	0.507000													37	89					0	0	0.804634	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631079	122631079	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:122631079C>G	ENST00000195173.4	-	19	3136	c.2833G>C	c.(2833-2835)Gag>Cag	p.E945Q	SEMA5B_ENST00000357599.3_Missense_Mutation_p.E946Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.E1000Q			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	946	TSP type-1 4.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGATGTCCTCACCTGGGGAG	0.632000													24	22					0	0	0.654019	0	0
ZNF250	58500	broad.mit.edu	37	8	146107829	146107829	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:146107829C>G	ENST00000292579.7	-	6	870	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.E247Q	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TAGGGCTTCTCACCTGTGTGA	0.483000													12	76					0	0	0.435327	0	0
LRP2	4036	broad.mit.edu	37	2	169989122	169989122	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:169989122C>G	ENST00000263816.3	-	77	13975	c.13690G>C	c.(13690-13692)Gag>Cag	p.E4564Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4564					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)	GGGTTTGTCTCTGGAACTATC	0.418000													4	240					0	0	0.150653	0	0
STAM	8027	broad.mit.edu	37	10	17747604	17747604	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:17747604C>G	ENST00000377524.3	+	12	1288	c.1073C>G	c.(1072-1074)tCa>tGa	p.S358*	STAM_ENST00000540523.1_Nonsense_Mutation_p.S247*	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	358					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TCAGAACTCTCAGAACTTAAT	0.323000													4	89					0	0	0.150653	0	0
PLOD2	5352	broad.mit.edu	37	3	145804659	145804659	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:145804659C>T	ENST00000282903.5	-	10	1219	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	PLOD2_ENST00000360060.3_Missense_Mutation_p.D348N|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.D293N	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	348					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTAGCTTTATCAAAAAATACC	0.284000													13	28					0	0	0.435327	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69420191	69420191	+	Silent	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:69420191C>A	ENST00000333026.3	+	4	454	c.354C>A	c.(352-354)atC>atA	p.I118I		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	118					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GTGTCTTCATCAACTTTGCCA	0.463000													37	39					3.66082e-28	3.93211e-28	0.812448	1	0
PXDN	7837	broad.mit.edu	37	2	1647338	1647338	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:1647338C>G	ENST00000252804.4	-	19	3804	c.3754G>C	c.(3754-3756)Gag>Cag	p.E1252Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1252					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCAGGGTTCTCATACCACAAC	0.557000													29	74					0	0	0.740014	0	0
AQP9	366	broad.mit.edu	37	15	58465363	58465363	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:58465363G>C	ENST00000219919.4	+	3	705	c.335G>C	c.(334-336)gGa>gCa	p.G112A	AQP9_ENST00000558772.1_Missense_Mutation_p.G47A|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.G112A	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	112					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CAGTTCTTGGGAGCCTTTGTG	0.473000													74	271					0	0	0.870114	0	0
STAT4	6775	broad.mit.edu	37	2	191929550	191929550	+	Silent	SNP	G	G	A	rs138111228	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:191929550G>A	ENST00000392320.2	-	8	1079	c.765C>T	c.(763-765)ctC>ctT	p.L255L	STAT4_ENST00000358470.4_Silent_p.L255L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	255					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GAAGCTGGTCGAGCCCATTGT	0.502000													73	262					0	0	0.870114	0	0
PCSK7	9159	broad.mit.edu	37	11	117098989	117098989	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:117098989C>T	ENST00000320934.3	-	4	1176	c.546G>A	c.(544-546)acG>acA	p.T182T		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	182	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTACCACCACCGTCACCCCTC	0.582000			T	IGH@	MLCLS								12	24					0	0	0.520397	0	0
SLC46A3	283537	broad.mit.edu	37	13	29286950	29286950	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:29286950C>G	ENST00000266943.6	-	3	1296	c.927G>C	c.(925-927)ttG>ttC	p.L309F	SLC46A3_ENST00000380814.4_Missense_Mutation_p.L309F	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	309					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GGAAACTAGTCAAAAAAGAGG	0.383000													30	81					0	0	0.717897	0	0
HS6ST3	266722	broad.mit.edu	37	13	96743704	96743704	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:96743704C>G	ENST00000376705.2	+	1	612	c.588C>G	c.(586-588)ctC>ctG	p.L196L		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	196						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGACGTGGCTCTTCTCCCGCT	0.637000													3	18					0	0	0.217242	0	0
KRT10	3858	broad.mit.edu	37	17	38975820	38975820	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:38975820C>T	ENST00000269576.5	-	6	1331	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	441	Coil 2.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ATTCTCCAGTCGGATCTTAAT	0.418000													61	184					0	0	0.870114	0	0
WDFY3	23001	broad.mit.edu	37	4	85617224	85617224	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:85617224G>C	ENST00000322366.6	-	57	9156	c.8749C>G	c.(8749-8751)Ctt>Gtt	p.L2917V	WDFY3_ENST00000295888.4_Missense_Mutation_p.L2934V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2934	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCATAAAAAAGATGATGGAAG	0.413000													49	139					0	0	0.870114	0	0
ANK2	287	broad.mit.edu	37	4	114280341	114280341	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:114280341G>C	ENST00000357077.4	+	38	10620	c.10567G>C	c.(10567-10569)Gag>Cag	p.E3523Q	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E3490Q|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3490					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCCACCTGTTGAGACCGAGCA	0.468000													56	152					0	0	0.870114	0	0
HSCB	150274	broad.mit.edu	37	22	29141879	29141879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:29141879G>A	ENST00000216027.3	+	4	516	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	HSCB_ENST00000398941.2_Intron|HSCB_ENST00000495977.1_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	151					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						AGAGATTCCTGAAAGGACAGA	0.378000													32	100					0	0	0.788014	0	0
SIN3A	25942	broad.mit.edu	37	15	75668138	75668138	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:75668138C>T	ENST00000394947.3	-	20	3773	c.3459G>A	c.(3457-3459)aaG>aaA	p.K1153K	SIN3A_ENST00000394949.4_Silent_p.K1153K|SIN3A_ENST00000360439.4_Silent_p.K1153K	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1153					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CCATGGTCTTCTTGCTGTTTC	0.468000													65	222					0	0	0.870114	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128246	3128246	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:3128246C>T	ENST00000380266.3	-	2	1792	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	491					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGAGCGAAATCAATTAACTCT	0.468000													41	78					0	0	0.819951	0	0
MAP3K15	389840	broad.mit.edu	37	X	19380883	19380883	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:19380883G>T	ENST00000338883.4	-	26	3651	c.3652C>A	c.(3652-3654)Cac>Aac	p.H1218N	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.H653N|MAP3K15_ENST00000469203.2_Missense_Mutation_p.H1050N	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1218							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AACTGAAGGTGATACAATTCT	0.323000													8	150					0.307466	0.309729	0.307466	1	0
ALDOB	229	broad.mit.edu	37	9	104192167	104192167	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:104192167G>A	ENST00000374855.4	-	3	318	c.194C>T	c.(193-195)tCt>tTt	p.S65F	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	65					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACTGTCCACAGAGAAGAGGAT	0.547000													73	196					0	0	0.870114	0	0
SHROOM2	357	broad.mit.edu	37	X	9900879	9900879	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:9900879C>G	ENST00000380913.3	+	6	3646	c.3556C>G	c.(3556-3558)Ccc>Gcc	p.P1186A	SHROOM2_ENST00000418909.2_Missense_Mutation_p.P21A|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1186					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGACAAACCTCCCCTGCTCAT	0.637000													18	15					0	0	0.539581	0	0
ARID1A	8289	broad.mit.edu	37	1	27101465	27101465	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:27101465C>T	ENST00000324856.7	+	18	5118	c.4747C>T	c.(4747-4749)Cct>Tct	p.P1583S	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1200S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1583					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAATCACATTCCTCAGGTATC	0.602000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								40	75					0	0	0.840704	0	0
N4BP1	9683	broad.mit.edu	37	16	48596101	48596101	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:48596101C>T	ENST00000262384.3	-	2	689	c.453G>A	c.(451-453)caG>caA	p.Q151Q	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	151					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CTGATTCTTTCTGACTACTGG	0.398000													27	117					0	0	0.750413	0	0
APC	324	broad.mit.edu	37	5	112177508	112177508	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:112177508G>A	ENST00000457016.1	+	16	6597	c.6217G>A	c.(6217-6219)Ggt>Agt	p.G2073S	APC_ENST00000257430.4_Missense_Mutation_p.G2073S|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.G2073S			P25054	APC_HUMAN	adenomatous polyposis coli	2073	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGCATATTAGGTGAAGATCT	0.383000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			49	114					0	0	0.870114	0	0
PLA1A	51365	broad.mit.edu	37	3	119325723	119325723	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:119325723C>T	ENST00000273371.4	+	2	248	c.176C>T	c.(175-177)tCg>tTg	p.S59L	PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.S43L|PLA1A_ENST00000495992.1_Missense_Mutation_p.S59L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	59					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTTGTCCCTTCGAATCCTAGC	0.507000													68	364					0	0	0.870114	0	0
SVEP1	79987	broad.mit.edu	37	9	113168843	113168843	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:113168843C>G	ENST00000401783.2	-	38	9373	c.9037G>C	c.(9037-9039)Gaa>Caa	p.E3013Q	SVEP1_ENST00000374469.1_Missense_Mutation_p.E2990Q|SVEP1_ENST00000297826.5_Missense_Mutation_p.E939Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3013	Sushi 27.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTTCCATATTCAATTACTGGT	0.488000													11	40					0	0	0.361761	0	0
PSG5	5673	broad.mit.edu	37	19	43689186	43689186	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:43689186G>C	ENST00000404580.1	-	2	266	c.178C>G	c.(178-180)Cag>Gag	p.Q60E	PSG5_ENST00000407356.1_Missense_Mutation_p.Q60E|PSG5_ENST00000599812.1_Missense_Mutation_p.Q60E|PSG5_ENST00000407568.1_Missense_Mutation_p.Q60E|PSG5_ENST00000366175.3_Missense_Mutation_p.Q60E|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000342951.6_Missense_Mutation_p.Q60E			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	60	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GCAAGATTCTGAGGCAAATTG	0.448000													105	356					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179616570	179616570	+	Silent	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179616570T>C	ENST00000360870.5	-	46	10779	c.10557A>G	c.(10555-10557)gaA>gaG	p.E3519E	TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3518	Ig-like 21.						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)			AAACAACCGGTTCACCCTCTA	0.373000													48	174					0	0	0.870114	0	0
NRG3	10718	broad.mit.edu	37	10	83635424	83635424	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:83635424C>A	ENST00000404547.1	+	1	328	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	NRG3_ENST00000372141.2_Missense_Mutation_p.Q110K			P56975	NRG3_HUMAN	neuregulin 3	110	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGGGATGGGCCAGGACCCCTT	0.642000													24	40					1.85244e-09	1.92754e-09	0.654019	1	0
ARHGAP10	79658	broad.mit.edu	37	4	148944413	148944413	+	Splice_Site	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:148944413G>C	ENST00000336498.3	+	19	1955		c.e19-1		ARHGAP10_ENST00000414545.2_Splice_Site	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10						apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTGTTGGAAGATTTTTCGGA	0.483000													3	102					0	0	0.115264	0	0
TIPRL	261726	broad.mit.edu	37	1	168160697	168160697	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:168160697G>A	ENST00000367833.2	+	4	620	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	TIPRL_ENST00000367830.3_Missense_Mutation_p.E159K	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	159					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TTTTGAGGATGAACTTCATGA	0.299000													22	170					0	0	0.717897	0	0
CCDC73	493860	broad.mit.edu	37	11	32676499	32676499	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:32676499G>C	ENST00000335185.5	-	10	708	c.665C>G	c.(664-666)tCa>tGa	p.S222*	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	222										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TATCAAGTCTGAGGCTGCTTT	0.299000													17	48					0	0	0.557998	0	0
SFI1	9814	broad.mit.edu	37	22	32014301	32014301	+	Splice_Site	SNP	T	T	A	rs111513493		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:32014301T>A	ENST00000432498.1	+	32	3926	c.3531_splice	c.e32-1	p.V1178_splice	SFI1_ENST00000443011.1_Splice_Site_p.V1056_splice|SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000443326.1_Splice_Site_p.V1127_splice|SFI1_ENST00000540643.1_Splice_Site_p.V1154_splice|SFI1_ENST00000400288.2_Splice_Site_p.V1209_splice|SFI1_ENST00000400289.1_Splice_Site_p.V1127_splice	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1209					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGGCCCCAGGTGGAAATGCAG	0.701000													10	26					0	0	0.387290	0	0
PDZD2	23037	broad.mit.edu	37	5	32037440	32037440	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:32037440G>A	ENST00000438447.1	+	7	1899	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	PDZD2_ENST00000282493.3_Missense_Mutation_p.R504H			O15018	PDZD2_HUMAN	PDZ domain containing 2	504					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCAAGAGTCGCCTTTCAGGT	0.547000													9	39					0	0	0.307466	0	0
FER1L6	654463	broad.mit.edu	37	8	125022951	125022951	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:125022951C>A	ENST00000522917.1	+	14	2024	c.1818C>A	c.(1816-1818)ttC>ttA	p.F606L	FER1L6_ENST00000399018.1_Missense_Mutation_p.F606L|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	606						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGGCAGACTTCCTGGTAGGTG	0.488000													9	407					0.000442599	0.000452892	0.335167	1	0
CASKIN1	57524	broad.mit.edu	37	16	2239055	2239055	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2239055G>T	ENST00000343516.6	-	6	682	c.590C>A	c.(589-591)gCt>gAt	p.A197D		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	197					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCGTTTTTAGCTGCGAGGTG	0.657000													17	79					1.02788e-11	1.07409e-11	0.520397	1	0
AKAP11	11215	broad.mit.edu	37	13	42872840	42872840	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:42872840G>A	ENST00000025301.2	+	7	698	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	175					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGATGATGATGATACTAACCA	0.403000													37	106					0	0	0.812448	0	0
SPATS1	221409	broad.mit.edu	37	6	44329585	44329585	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:44329585G>A	ENST00000288390.2	+	4	777	c.430G>A	c.(430-432)Gag>Aag	p.E144K	SPATS1_ENST00000323108.8_Missense_Mutation_p.E144K			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	144										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCATCGTCCTGAGTGGACATT	0.473000													43	175					0	0	0.870114	0	0
TSC22D1	8848	broad.mit.edu	37	13	45008999	45008999	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:45008999C>T	ENST00000458659.2	-	3	3475	c.2985G>A	c.(2983-2985)ttG>ttA	p.L995L	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Silent_p.L66L	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	995					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCGCATACATCAAATGGCTTT	0.378000													57	191					0	0	0.870114	0	0
PDE6B	5158	broad.mit.edu	37	4	651154	651154	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:651154C>T	ENST00000255622.6	+	10	1315	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	PDE6B_ENST00000496514.1_Silent_p.F424F|PDE6B_ENST00000429163.2_Silent_p.F145F	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	424	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TGACACAGTTCCTGGGCTGGT	0.622000													16	26					0	0	0.479597	0	0
ZNF777	27153	broad.mit.edu	37	7	149152780	149152780	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:149152780C>G	ENST00000247930.4	-	2	657	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ACTTCTTGTTCAGCAGCAGCT	0.612000													8	225					0	0	0.278610	0	0
CETP	1071	broad.mit.edu	37	16	56996944	56996944	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:56996944G>C	ENST00000200676.3	+	2	271	c.141G>C	c.(139-141)gtG>gtC	p.V47V	CETP_ENST00000566128.1_5'UTR|CETP_ENST00000379780.2_Silent_p.V47V|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	47					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CTGCCAAGGTGATCCAGACCG	0.617000													19	86					0	0	0.592651	0	0
WNK3	65267	broad.mit.edu	37	X	54324818	54324818	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:54324818G>C	ENST00000354646.2	-	7	1626	c.1188C>G	c.(1186-1188)atC>atG	p.I396M	WNK3_ENST00000375159.2_Missense_Mutation_p.I396M|WNK3_ENST00000375169.3_Missense_Mutation_p.I396M	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	396	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATAGGTCCCTGATAGACAACC	0.333000													46	26					0	0	0.859065	0	0
PUF60	22827	broad.mit.edu	37	8	144899226	144899226	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:144899226G>C	ENST00000526683.1	-	11	1789	c.1234C>G	c.(1234-1236)Ctc>Gtc	p.L412V	PUF60_ENST00000453551.2_Missense_Mutation_p.L369V|PUF60_ENST00000456095.2_Missense_Mutation_p.L383V|PUF60_ENST00000313352.7_Missense_Mutation_p.L352V|PUF60_ENST00000527197.1_Missense_Mutation_p.L366V|PUF60_ENST00000349157.6_Missense_Mutation_p.L395V|PUF60_ENST00000524570.1_5'UTR	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	412	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCTCCAGGAGACCCAGCGTT	0.622000													7	35					0	0	0.248553	0	0
MUC17	140453	broad.mit.edu	37	7	100683350	100683350	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100683350G>A	ENST00000306151.4	+	3	8717	c.8653G>A	c.(8653-8655)Gag>Aag	p.E2885K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2885	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.483000													145	425					0	0	0.870114	0	0
GDPD1	284161	broad.mit.edu	37	17	57322854	57322854	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:57322854G>C	ENST00000284116.4	+	3	402	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	GDPD1_ENST00000581276.1_Missense_Mutation_p.E89Q|GDPD1_ENST00000581140.1_Missense_Mutation_p.E89Q	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	89	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GTCACATGATGAGAATCTAAA	0.348000													4	127					0	0	0.150653	0	0
SLC36A3	285641	broad.mit.edu	37	5	150664219	150664219	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:150664219C>T	ENST00000335230.3	-	7	1173	c.762G>A	c.(760-762)ttG>ttA	p.L254L	SLC36A3_ENST00000377713.3_Silent_p.L295L	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	254						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAAGAACAGCAAGAAGGTCT	0.493000													30	109					0	0	0.750413	0	0
ATXN7	6314	broad.mit.edu	37	3	63982084	63982084	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:63982084G>A	ENST00000398590.3	+	12	3139	c.2586G>A	c.(2584-2586)gtG>gtA	p.V862V	ATXN7_ENST00000295900.6_Silent_p.V862V|ATXN7_ENST00000538065.1_Silent_p.V862V|ATXN7_ENST00000487717.1_Silent_p.V862V|ATXN7_ENST00000484332.1_Silent_p.V717V	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	862			V -> M (in dbSNP:rs3774729).		cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TGCCAGCCGTGAACAATGTCC	0.502000													21	48					0	0	0.693898	0	0
SRD5A3	79644	broad.mit.edu	37	4	56225583	56225583	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:56225583C>T	ENST00000264228.4	+	2	520	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	SRD5A3_ENST00000514398.1_3'UTR	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	98					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			TACTCAATCTCTGTTCCTGGG	0.478000													104	289					0	0	0.870114	0	0
ZNF566	84924	broad.mit.edu	37	19	36940594	36940594	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:36940594C>G	ENST00000454319.1	-	5	679	c.545G>C	c.(544-546)aGa>aCa	p.R182T	ZNF566_ENST00000424129.2_Missense_Mutation_p.R181T|ZNF566_ENST00000392170.2_Missense_Mutation_p.R182T|ZNF566_ENST00000493391.1_Missense_Mutation_p.R77T|ZNF566_ENST00000434377.2_Missense_Mutation_p.R181T	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGAGCCATGTCTAAAGGTTTT	0.378000													51	137					0	0	0.870114	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182869253	182869253	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:182869253G>C	ENST00000367547.3	-	10	2063	c.1827C>G	c.(1825-1827)ctC>ctG	p.L609L	SHCBP1L_ENST00000423786.1_Silent_p.L490L|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	681										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CCCTTTTGTTGAGAGCTTCTT	0.313000													9	62					0	0	0.307466	0	0
LAMA4	3910	broad.mit.edu	37	6	112508744	112508744	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:112508744C>T	ENST00000230538.7	-	8	1271	c.874G>A	c.(874-876)Gag>Aag	p.E292K	LAMA4_ENST00000389463.4_Missense_Mutation_p.E285K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E285K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E285K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	292	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTGCCTTCCTCGATGGAGAGC	0.537000													10	35					0	0	0.592651	0	0
MESDC1	59274	broad.mit.edu	37	15	81295691	81295691	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:81295691C>G	ENST00000267984.2	+	1	2397	c.1079C>G	c.(1078-1080)tCt>tGt	p.S360C		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	360										endometrium(1)|lung(2)	3						AATTCCAATTCTGTGAATTAG	0.517000													3	19					0	0	0.115264	0	0
KIAA1109	84162	broad.mit.edu	37	4	123245661	123245661	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:123245661G>A	ENST00000264501.4	+	64	11247	c.10874G>A	c.(10873-10875)aGa>aAa	p.R3625K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3625K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3625K			Q2LD37	K1109_HUMAN	KIAA1109	3625					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCTTCTGGAAGACCACCTCTT	0.378000													18	78					0	0	0.539581	0	0
FRY	10129	broad.mit.edu	37	13	32776558	32776558	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:32776558C>G	ENST00000380250.3	+	31	4408	c.3912C>G	c.(3910-3912)ctC>ctG	p.L1304L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAAGTATTCTCTATGGAACAC	0.478000													10	126					0	0	0.411799	0	0
UBR2	23304	broad.mit.edu	37	6	42626464	42626464	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:42626464G>C	ENST00000372899.1	+	29	3402	c.3144G>C	c.(3142-3144)caG>caC	p.Q1048H	UBR2_ENST00000372883.3_Missense_Mutation_p.R556T|UBR2_ENST00000372901.1_Missense_Mutation_p.Q1048H	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1048					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCATGGCTCAGATGTCTGAAA	0.423000													61	102					0	0	0.870114	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908067	12908067	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12908067G>C	ENST00000317869.6	-	2	301	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TTGACAACAAGAGTGTTGAGA	0.443000													32	303					0	0	0.729181	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798247	148798247	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:148798247G>C	ENST00000355220.5	+	5	1203	c.1101G>C	c.(1099-1101)aaG>aaC	p.K367N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.K338N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	367	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGCAGGAAAAGTACCTGGTGT	0.557000													92	96					0	0	0.870114	0	0
VSIG2	23584	broad.mit.edu	37	11	124621364	124621364	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:124621364C>G	ENST00000403470.1	-	2	229	c.174G>C	c.(172-174)gaG>gaC	p.E58D	VSIG2_ENST00000326621.5_Missense_Mutation_p.E58D			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	58	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CAAAGCTCCACTCCAGGGCGA	0.627000													34	112					0	0	0.779181	0	0
DHRS7	51635	broad.mit.edu	37	14	60619717	60619717	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:60619717G>A	ENST00000216500.5	-	5	1028	c.573C>T	c.(571-573)atC>atT	p.I191I	DHRS7_ENST00000557185.1_Silent_p.I191I|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000536410.2_Silent_p.I141I|DHRS7_ENST00000553986.1_5'UTR			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	191							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TGATACCCAGGATGCTATTCA	0.433000													109	94					0	0	0.870114	0	0
ATRX	546	broad.mit.edu	37	X	76891448	76891448	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:76891448G>C	ENST00000373344.5	-	16	4871	c.4657C>G	c.(4657-4659)Cat>Gat	p.H1553D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.H1515D	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1553					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATATTTCTATGAACCTGCACT	0.323000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						27	14					0	0	0.681144	0	0
MYH4	4622	broad.mit.edu	37	17	10358497	10358497	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10358497G>C	ENST00000255381.2	-	20	2400	c.2290C>G	c.(2290-2292)Cat>Gat	p.H764D	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	764	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACCTTGGTATGACCGAATTTG	0.383000													3	151					0	0	0.115264	0	0
TTN	7273	broad.mit.edu	37	2	179487426	179487426	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179487426C>T	ENST00000589042.1	-	243	45108	c.44884G>A	c.(44884-44886)Gag>Aag	p.E14962K	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5897K|TTN_ENST00000591111.1_Missense_Mutation_p.E13321K|TTN_ENST00000342175.6_Missense_Mutation_p.E6089K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12394K|TTN_ENST00000359218.5_Missense_Mutation_p.E6022K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13321	Fibronectin type-III 8.						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)			AGTTCACACTCAAATCGAGCC	0.373000													13	12					0	0	0.457914	0	0
PDGFRA	5156	broad.mit.edu	37	4	55136804	55136804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:55136804C>T	ENST00000257290.5	+	8	1457	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	376	Ig-like C2-type 4.				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)	TAAAAGGTATCGAAGCAAATT	0.318000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			26	91					0	0	0.693898	0	0
IDS	3423	broad.mit.edu	37	X	148577955	148577955	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:148577955C>G	ENST00000340855.6	-	6	1010	c.801G>C	c.(799-801)tgG>tgC	p.W267C	AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.W267C|IDS_ENST00000370443.4_Missense_Mutation_p.W267C|IDS_ENST00000541269.1_Missense_Mutation_p.W56C	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	267						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGATGTCCATCCAGGGGTTGT	0.542000													6	187					0	0	0.217242	0	0
IL6R	3570	broad.mit.edu	37	1	154427027	154427027	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:154427027G>C	ENST00000368485.3	+	9	1567	c.1130G>C	c.(1129-1131)gGa>gCa	p.G377A	IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Intron	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	377					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGCCTTCGGAACGCTCCTC	0.483000													17	44					0	0	0.557998	0	0
SH2B3	10019	broad.mit.edu	37	12	111885521	111885521	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:111885521C>T	ENST00000341259.2	+	7	1655	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	SH2B3_ENST00000538307.1_Missense_Mutation_p.S231L	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	433	SH2.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						CACTTTCCCTCGGTCGTGGAC	0.667000													31	71					0	0	0.717897	0	0
ZFPL1	7542	broad.mit.edu	37	11	64853913	64853913	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:64853913G>A	ENST00000294258.3	+	4	393	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	81					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CTGCCTCAATGAACGTGCTGC	0.592000													115	303					0	0	0.870114	0	0
BAZ2B	29994	broad.mit.edu	37	2	160295624	160295624	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:160295624C>G	ENST00000392783.2	-	7	1291	c.796G>C	c.(796-798)Gat>Cat	p.D266H	BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264H|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D266H|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D264H	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						tctAGATCATCTGAATCACTG	0.373000													71	184					0	0	0.870114	0	0
SRGAP3	9901	broad.mit.edu	37	3	9074387	9074387	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:9074387G>A	ENST00000383836.3	-	12	1913	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Intron	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	496	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TACACTGAGAGAGGCCTAGGT	0.468000			T	RAF1	pilocytic astrocytoma								45	40					0	0	0.870114	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829777	106829777	+	RNA	SNP	C	C	G	rs11546807		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:106829777C>G	ENST00000390616.2	-	0	216																											GCTGGCGGATCCAGCTCCAGT	0.572000													43	36					0	0	0.870114	0	0
NPR3	4883	broad.mit.edu	37	5	32789775	32789775	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:32789775C>T	ENST00000326958.1	+	1	831	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F	NPR3_ENST00000265074.8_3'UTR																							CATGTGCCTTCTTTGCCCCAA	0.403000													51	195					0	0	0.870114	0	0
BTN2A2	10385	broad.mit.edu	37	6	26385375	26385375	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:26385375C>T	ENST00000356709.4	+	3	338	c.227C>T	c.(226-228)tCc>tTc	p.S76F	BTN2A2_ENST00000469230.1_Missense_Mutation_p.S76F|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.S76F|BTN2A2_ENST00000416795.2_Missense_Mutation_p.S76F	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	76	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TCTCAGTTCTCCCCCGCAGTG	0.527000													31	40					0	0	0.779181	0	0
NICN1	84276	broad.mit.edu	37	3	49466543	49466543	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49466543C>T	ENST00000273598.3	-	1	216	c.130G>A	c.(130-132)Gag>Aag	p.E44K	NICN1_ENST00000436744.2_Missense_Mutation_p.E44K|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	44						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTGCTCACCTCGAAGGGAGCG	0.647000													24	35					0	0	0.740014	0	0
C11orf35	256329	broad.mit.edu	37	11	558713	558713	+	Missense_Mutation	SNP	C	C	T	rs148047813	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:558713C>T	ENST00000329451.3	-	3	274	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	71										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCCAGTTCTCGCTGTCTCCA	0.672000													10	8					0	0	0.335167	0	0
HAND2	9464	broad.mit.edu	37	4	174449906	174449906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:174449906C>A	ENST00000359562.4	-	1	1474	c.535G>T	c.(535-537)Gag>Tag	p.E179*	HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	179					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTCCTCTTCTCCTCTTTCACG	0.612000													6	27					0.00116845	0.00119166	0.217242	1	0
CTSD	1509	broad.mit.edu	37	11	1774754	1774754	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:1774754G>A	ENST00000236671.2	-	9	1350	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	406					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCCTCGGCGAAGCCCACCC	0.667000													19	64					0	0	0.654019	0	0
WSB2	55884	broad.mit.edu	37	12	118473077	118473077	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:118473077G>T	ENST00000315436.3	-	7	1027	c.886C>A	c.(886-888)Ctg>Atg	p.L296M	WSB2_ENST00000441406.2_Missense_Mutation_p.L313M|WSB2_ENST00000535496.1_Missense_Mutation_p.L298M|WSB2_ENST00000544233.1_Missense_Mutation_p.L86M|WSB2_ENST00000542304.1_Missense_Mutation_p.L71M	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	296					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAGATCTCAGTGAGCTAATG	0.537000											OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	68					9.65021e-13	1.0127e-12	0.750413	1	0
ZNF329	79673	broad.mit.edu	37	19	58639517	58639517	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:58639517C>T	ENST00000598312.1	-	4	1587	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	ZNF329_ENST00000358067.4_Missense_Mutation_p.E452K	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TAGGGCTTCTCACCAGTATGA	0.502000													34	87					0	0	0.769981	0	0
UTRN	7402	broad.mit.edu	37	6	144808819	144808819	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:144808819G>C	ENST00000367545.3	+	28	3958	c.3958G>C	c.(3958-3960)Gat>Cat	p.D1320H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1320					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCGATATGAAGATCTAAGTCA	0.458000													34	92					0	0	0.870114	0	0
CDC27	996	broad.mit.edu	37	17	45216151	45216151	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45216151G>A	ENST00000066544.3	-	13	1751	c.1658C>T	c.(1657-1659)tCa>tTa	p.S553L	CDC27_ENST00000527547.1_Missense_Mutation_p.S552L|CDC27_ENST00000531206.1_Missense_Mutation_p.S559L|CDC27_ENST00000446365.2_Missense_Mutation_p.S492L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	553					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGACAGAACTGAAAGAGCAAC	0.353000													30	118					0	0	0.729181	0	0
ZNF296	162979	broad.mit.edu	37	19	45579002	45579002	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:45579002G>C	ENST00000303809.2	-	2	631	c.417C>G	c.(415-417)ctC>ctG	p.L139L		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	139					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGCCTCTGAAGAGCTGACAGC	0.632000													36	106					0	0	0.812448	0	0
RNF213	57674	broad.mit.edu	37	17	78345702	78345702	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:78345702G>A	ENST00000582970.1	+	47	12597	c.12454G>A	c.(12454-12456)Gaa>Aaa	p.E4152K	RNF213_ENST00000508628.2_Missense_Mutation_p.E4201K|RNF213_ENST00000336301.6_Missense_Mutation_p.E2225K|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTATATTCAGGAATATTTGAC	0.348000													15	51					0	0	0.479597	0	0
ATP13A3	79572	broad.mit.edu	37	3	194140610	194140610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:194140610G>A	ENST00000439040.1	-	31	4191	c.3400C>T	c.(3400-3402)Cag>Tag	p.Q1134*	ATP13A3_ENST00000256031.4_Nonsense_Mutation_p.Q1134*			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1134					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AGTCTTACCTGAAGAACCTGG	0.318000													43	168					0	0	0.870114	0	0
CSMD1	64478	broad.mit.edu	37	8	3226815	3226815	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:3226815G>C	ENST00000520002.1	-	20	3418	c.2863C>G	c.(2863-2865)Cta>Gta	p.L955V	CSMD1_ENST00000539096.1_Missense_Mutation_p.L954V|CSMD1_ENST00000537824.1_Missense_Mutation_p.L954V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L955V|CSMD1_ENST00000602557.1_Missense_Mutation_p.L955V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L954V|CSMD1_ENST00000602723.1_Missense_Mutation_p.L955V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	955	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGCAGTTTAGAGAGTTTGGA	0.398000													5	32					0	0	0.217242	0	0
OR8H2	390151	broad.mit.edu	37	11	55872928	55872928	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55872928C>T	ENST00000313503.1	+	1	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTTATTATGTCCAAAAGGCTC	0.468000										HNSCC(53;0.14)			116	280					0	0	0.870114	0	0
STOX1	219736	broad.mit.edu	37	10	70646010	70646010	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:70646010G>A	ENST00000298596.6	+	3	2541	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.E710K|STOX1_ENST00000399169.4_Missense_Mutation_p.E820K	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	820						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CCTCTCTGCTGAAAGTTGTGG	0.483000													56	65					0	0	0.870114	0	0
SULF1	23213	broad.mit.edu	37	8	70550802	70550802	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:70550802G>A	ENST00000260128.4	+	20	3067	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.E784K|SULF1_ENST00000419716.3_Missense_Mutation_p.E784K|SULF1_ENST00000402687.4_Missense_Mutation_p.E784K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	784					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACAGTTAATGAGACGCATAA	0.343000													40	171					0	0	0.804634	0	0
MYH10	4628	broad.mit.edu	37	17	8413181	8413181	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8413181C>G	ENST00000360416.3	-	25	3177	c.3039G>C	c.(3037-3039)aaG>aaC	p.K1013N	MYH10_ENST00000269243.4_Missense_Mutation_p.K982N|MYH10_ENST00000396239.1_Missense_Mutation_p.K1003N|MYH10_ENST00000379980.4_Missense_Mutation_p.K998N	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	982					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCTCTTCCATCTTCTTGATCT	0.448000													53	164					0	0	0.870114	0	0
APP	351	broad.mit.edu	37	21	27284272	27284272	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:27284272C>T	ENST00000358918.3	-	14	1889	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	APP_ENST00000439274.2_Missense_Mutation_p.E508K|APP_ENST00000348990.5_Missense_Mutation_p.E489K|APP_ENST00000448388.2_Missense_Mutation_p.E454K|APP_ENST00000440126.3_Missense_Mutation_p.E540K|APP_ENST00000359726.3_Missense_Mutation_p.E508K|APP_ENST00000346798.3_Missense_Mutation_p.E564K|APP_ENST00000357903.3_Missense_Mutation_p.E545K|APP_ENST00000354192.3_Missense_Mutation_p.E433K	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	564					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGAAGCAGCTCATCTAAACCA	0.438000													16	56					0	0	0.520397	0	0
CARD10	29775	broad.mit.edu	37	22	37888526	37888526	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:37888526G>A	ENST00000403299.1	-	19	2883	c.2667C>T	c.(2665-2667)tcC>tcT	p.S889S	CARD10_ENST00000406271.3_Silent_p.S603S|CARD10_ENST00000251973.5_Silent_p.S889S			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	889					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CAGGCGCTGAGGATGGGCACA	0.667000													21	49					0	0	0.575678	0	0
SAP30L	79685	broad.mit.edu	37	5	153835558	153835558	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:153835558G>C	ENST00000297109.6	+	4	1170	c.522G>C	c.(520-522)caG>caC	p.Q174H	SAP30L_ENST00000440364.2_Missense_Mutation_p.Q133H|SAP30L_ENST00000426761.2_Missense_Mutation_p.Q128H	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GACTGGACCAGAAATCGGAGG	0.438000													37	163					0	0	0.779181	0	0
EID2B	126272	broad.mit.edu	37	19	40023100	40023100	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:40023100C>G	ENST00000326282.4	-	1	394	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	115					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGCGTTCCTCGAAATCCCGT	0.557000													34	60					0	0	0.788014	0	0
CEP170	9859	broad.mit.edu	37	1	243362377	243362377	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:243362377C>T	ENST00000366542.1	-	7	667	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	CEP170_ENST00000366543.1_Missense_Mutation_p.E206K|CEP170_ENST00000366544.1_Missense_Mutation_p.E206K	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	206						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTTCCAGCTTCATGGTTTTTT	0.403000													4	35					0	0	0.278610	0	0
GUCY2C	2984	broad.mit.edu	37	12	14769618	14769618	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:14769618C>G	ENST00000261170.3	-	25	3055	c.2919G>C	c.(2917-2919)aaG>aaC	p.K973N	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	973					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACTCAGTTCTCTTCAGGATGG	0.428000													67	208					0	0	0.870114	0	0
EPB41L3	23136	broad.mit.edu	37	18	5410589	5410589	+	Silent	SNP	G	G	A	rs140128908		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:5410589G>A	ENST00000341928.2	-	14	2437	c.2097C>T	c.(2095-2097)gcC>gcT	p.A699A	EPB41L3_ENST00000400111.3_Silent_p.A530A|EPB41L3_ENST00000342933.3_Silent_p.A699A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.A530A|EPB41L3_ENST00000540638.2_Silent_p.A530A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	699	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCTCCCCGTCGGCTGCGGTGT	0.532000													21	41					0	0	0.654019	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768392	140768392	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140768392C>A	ENST00000519479.1	+	1	941	c.941C>A	c.(940-942)tCc>tAc	p.S314Y	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGAATATTCCATAGTTTTG	0.408000													38	35					5.04308e-16	5.33769e-16	0.819951	1	0
SWT1	54823	broad.mit.edu	37	1	185143909	185143909	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:185143909A>G	ENST00000367500.4	+	5	795	c.630A>G	c.(628-630)caA>caG	p.Q210Q	SWT1_ENST00000367501.3_Silent_p.Q210Q	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	210										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAGAAATCAATTTTCTCAGG	0.348000													34	170					0	0	0.812448	0	0
RFC3	5983	broad.mit.edu	37	13	34395395	34395395	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:34395395C>G	ENST00000380071.3	+	2	344	c.214C>G	c.(214-216)Cag>Gag	p.Q72E	RFC3_ENST00000434425.1_Missense_Mutation_p.Q72E	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	72					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AATTGAACATCAGACCATCAC	0.418000													4	127					0	0	0.184627	0	0
TRPA1	8989	broad.mit.edu	37	8	72981315	72981315	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:72981315G>A	ENST00000262209.4	-	3	594	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	129						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCATCATGTTGAAGTTTCGGA	0.478000													22	434					0	0	0.870114	0	0
MPI	4351	broad.mit.edu	37	15	75189514	75189514	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:75189514C>G	ENST00000352410.4	+	7	1074	c.1007C>G	c.(1006-1008)tCa>tGa	p.S336*	MPI_ENST00000563786.1_Nonsense_Mutation_p.S316*|MPI_ENST00000323744.6_Nonsense_Mutation_p.S275*|MPI_ENST00000566377.1_Intron|MPI_ENST00000535694.1_Nonsense_Mutation_p.S286*			P34949	MPI_HUMAN	mannose phosphate isomerase	336					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCCTACCTCTCAATCTATGAC	0.517000													64	116					0	0	0.870114	0	0
ZNF343	79175	broad.mit.edu	37	20	2464518	2464518	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:2464518G>A	ENST00000278772.4	-	6	1576	c.1089C>T	c.(1087-1089)agC>agT	p.S363S	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						ATGACTTCTCGCTAAAGCCTC	0.502000													14	62					0	0	0.435327	0	0
DDX24	57062	broad.mit.edu	37	14	94526564	94526564	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:94526564G>A	ENST00000330836.5	-	5	1924	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	DDX24_ENST00000544005.1_Missense_Mutation_p.S348F|DDX24_ENST00000555054.1_Missense_Mutation_p.S555F	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	598	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTGATGCAGGAGATACTGTT	0.498000													67	42					0	0	0.870114	0	0
ABCA2	20	broad.mit.edu	37	9	139909403	139909403	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:139909403C>T	ENST00000265662.5	-	25	3991	c.3844G>A	c.(3844-3846)Gag>Aag	p.E1282K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E1282K|ABCA2_ENST00000371605.3_Missense_Mutation_p.E1281K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1281					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGGCGGCCTCGCTGGGCAGG	0.662000													11	23					0	0	0.411799	0	0
CD3D	915	broad.mit.edu	37	11	118210614	118210614	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:118210614C>G	ENST00000300692.4	-	3	418	c.282G>C	c.(280-282)caG>caC	p.Q94H	CD3D_ENST00000529594.1_Missense_Mutation_p.Q21H|CD3D_ENST00000392884.2_Intron	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	94					positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCACACAGCTCTGGCACACTG	0.547000													21	74					0	0	0.624587	0	0
IGSF10	285313	broad.mit.edu	37	3	151155740	151155740	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:151155740C>T	ENST00000282466.3	-	6	6608	c.6609G>A	c.(6607-6609)gtG>gtA	p.V2203V	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2203	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGAGCAGTTTCACTTTGTTGA	0.418000													128	215					0	0	0.870114	0	0
CUL7	9820	broad.mit.edu	37	6	43015985	43015985	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:43015985C>T	ENST00000535468.1	-	9	2408	c.2322G>A	c.(2320-2322)ctG>ctA	p.L774L	CUL7_ENST00000265348.3_Silent_p.L690L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	690					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)			CCAGCTGCTTCAGGATTCTGG	0.617000													47	187					0	0	0.859065	0	0
KCNH7	90134	broad.mit.edu	37	2	163393474	163393474	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:163393474C>G	ENST00000332142.5	-	3	523	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.E142Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	142	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTTACCCTCTCTGGGGTGGCA	0.378000													63	184					0	0	0.870114	0	0
ETS2	2114	broad.mit.edu	37	21	40191474	40191474	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:40191474G>A	ENST00000360214.3	+	9	1319	c.859G>A	c.(859-861)Gag>Aag	p.E287K	ETS2_ENST00000360938.3_Missense_Mutation_p.E287K	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	287					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GGACAGCTTCGAGAGCTCAGA	0.552000													16	54					0	0	0.500413	0	0
GH1	2688	broad.mit.edu	37	17	61994806	61994806	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:61994806C>T	ENST00000323322.5	-	5	559	c.517G>A	c.(517-519)Gac>Aac	p.D173N	GH1_ENST00000458650.2_Missense_Mutation_p.D158N|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.D78N|GH1_ENST00000351388.4_Missense_Mutation_p.D133N	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	173					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GAGTTTGTGTCGAACTTGCTG	0.542000													49	128					0	0	0.870114	0	0
DGKQ	1609	broad.mit.edu	37	4	955487	955487	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:955487G>C	ENST00000273814.3	-	20	2524	c.2451C>G	c.(2449-2451)atC>atG	p.I817M		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	817					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGGGATGTTGATGAAGATGA	0.652000													16	32					0	0	0.539581	0	0
CDCA7L	55536	broad.mit.edu	37	7	21947813	21947813	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:21947813C>T	ENST00000406877.3	-	4	895	c.616G>A	c.(616-618)Gag>Aag	p.E206K	CDCA7L_ENST00000356195.5_Missense_Mutation_p.E172K|CDCA7L_ENST00000373934.4_Missense_Mutation_p.E160K|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	206					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCCTGGCTCTCATCCCGAGAG	0.463000													22	49					0	0	0.654019	0	0
UTP20	27340	broad.mit.edu	37	12	101767494	101767494	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:101767494G>C	ENST00000261637.4	+	54	7254	c.7080G>C	c.(7078-7080)gaG>gaC	p.E2360D		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2360					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						TCAGCCTCGAGAAAAAAGATT	0.423000													39	75					0	0	0.840704	0	0
PLB1	151056	broad.mit.edu	37	2	28741373	28741373	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:28741373T>C	ENST00000422425.2	+	3	202	c.158T>C	c.(157-159)tTa>tCa	p.L53S	PLB1_ENST00000327757.5_Missense_Mutation_p.L53S	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	53	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCAAATAAATTAGGAGTGAAT	0.443000													61	127					0	0	0.870114	0	0
SUCO	51430	broad.mit.edu	37	1	172539802	172539802	+	Splice_Site	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:172539802G>C	ENST00000367723.3	+	9	1582		c.e9-1		SUCO_ENST00000263688.3_Splice_Site	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		TTTTAAAATAGAGCACATCTG	0.269000													17	41					0	0	0.520397	0	0
ERN2	10595	broad.mit.edu	37	16	23706664	23706664	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:23706664C>G	ENST00000256797.4	-	15	1969	c.1801G>C	c.(1801-1803)Gag>Cag	p.E601Q	ERN2_ENST00000457008.2_Missense_Mutation_p.E501Q	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	553	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCAAAGCACTCGCGGAGGAGC	0.627000													5	12					0	0	0.248553	0	0
ZNF134	7693	broad.mit.edu	37	19	58132674	58132674	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:58132674G>A	ENST00000396161.5	+	3	1497	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	396						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTTCACACTGGAGAAAGGCCA	0.498000													50	168					0	0	0.870114	0	0
UBAP2L	9898	broad.mit.edu	37	1	154223669	154223669	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:154223669C>T	ENST00000428931.1	+	13	1533	c.1366C>T	c.(1366-1368)Ctg>Ttg	p.L456L	UBAP2L_ENST00000343815.6_Silent_p.L456L|UBAP2L_ENST00000271877.7_Silent_p.L467L|UBAP2L_ENST00000361546.2_Silent_p.L456L	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	456					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTCTTCTCCTCTGCCAAGCAA	0.547000													88	142					0	0	0.870114	0	0
TAOK1	57551	broad.mit.edu	37	17	27809270	27809270	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:27809270G>C	ENST00000261716.3	+	8	1138	c.619G>C	c.(619-621)Gat>Cat	p.D207H	TAOK1_ENST00000536202.1_Missense_Mutation_p.D207H	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	207	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGGCAAAGTAGATGTGTGGTC	0.313000													7	183					0	0	0.278610	0	0
HCN1	348980	broad.mit.edu	37	5	45396681	45396681	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:45396681G>C	ENST00000303230.4	-	4	1200	c.1143C>G	c.(1141-1143)gtC>gtG	p.V381V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	381						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGTGGCCCCGACGATCATGC	0.507000													24	60					0	0	0.681144	0	0
BFAR	51283	broad.mit.edu	37	16	14755859	14755859	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:14755859C>T	ENST00000261658.2	+	6	1171	c.894C>T	c.(892-894)ttC>ttT	p.F298F	BFAR_ENST00000563971.1_Silent_p.F173F|BFAR_ENST00000426842.2_Silent_p.F170F	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	298					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TCCTACCTTTCATCCACACCA	0.542000													76	212					0	0	0.870114	0	0
MORC1	27136	broad.mit.edu	37	3	108746617	108746617	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108746617A>T	ENST00000232603.5	-	17	1767	c.1685T>A	c.(1684-1686)cTg>cAg	p.L562Q	MORC1_ENST00000483760.1_Missense_Mutation_p.L562Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	562					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTGTTCTGCCAGTCTATTTTG	0.408000													10	286					0	0	0.387290	0	0
A2M	2	broad.mit.edu	37	12	9227270	9227270	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:9227270G>C	ENST00000318602.7	-	29	3949	c.3642C>G	c.(3640-3642)ctC>ctG	p.L1214L		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1214					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGAGATAAGCGAGGAGCACAT	0.587000													12	38					0	0	0.387290	0	0
FDXR	2232	broad.mit.edu	37	17	72858968	72858968	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:72858968G>C	ENST00000442102.2	-	12	1662	c.1576C>G	c.(1576-1578)Cag>Gag	p.Q526E	FDXR_ENST00000413947.2_Missense_Mutation_p.Q514E|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000583917.1_Missense_Mutation_p.Q455E|FDXR_ENST00000581530.1_Missense_Mutation_p.Q489E|FDXR_ENST00000420580.2_Missense_Mutation_p.Q443E|FDXR_ENST00000582944.1_Missense_Mutation_p.Q475E|FDXR_ENST00000544854.1_Missense_Mutation_p.Q431E|FDXR_ENST00000293195.5_Missense_Mutation_p.Q483E	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	483					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCATCTCCTGAGGATCCACC	0.687000													34	84					0	0	0.760397	0	0
PSME2	5721	broad.mit.edu	37	14	24614473	24614473	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:24614473C>G	ENST00000216802.5	-	5	880	c.241G>C	c.(241-243)Gat>Cat	p.D81H	PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Missense_Mutation_p.D70H	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	81					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		TCCTGCTTATCTGTTTCCATC	0.463000													6	151					0	0	0.217242	0	0
FAM135B	51059	broad.mit.edu	37	8	139190891	139190891	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:139190891C>G	ENST00000395297.1	-	10	1086	c.916G>C	c.(916-918)Gat>Cat	p.D306H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	306								p.D306N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGCCAGATCCTTGCTTATC	0.512000										HNSCC(54;0.14)			21	72					0	0	0.608945	0	0
KCNMB1	3779	broad.mit.edu	37	5	169810677	169810677	+	Silent	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:169810677C>A	ENST00000521859.1	-	3	711	c.312G>T	c.(310-312)ctG>ctT	p.L104L	KCNMB1_ENST00000274629.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron			Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	0					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CCCTCCAGTTCAGTACCTGCT	0.587000													25	55					3.08376e-08	3.18992e-08	0.654019	1	0
DOCK11	139818	broad.mit.edu	37	X	117773418	117773418	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:117773418C>G	ENST00000276204.6	+	38	4096	c.4022C>G	c.(4021-4023)tCa>tGa	p.S1341*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.S1341*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1341					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCCTGGCTGTCAAAACACTTC	0.393000													3	91					0	0	0.150653	0	0
ZNF415	55786	broad.mit.edu	37	19	53612605	53612605	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:53612605C>T	ENST00000455735.2	-	7	1157	c.837G>A	c.(835-837)atG>atA	p.M279I	ZNF415_ENST00000601493.1_Start_Codon_SNP_p.M1I|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.M279I|ZNF415_ENST00000440291.1_Missense_Mutation_p.M218I|ZNF415_ENST00000500065.4_Missense_Mutation_p.M231I|ZNF415_ENST00000421033.1_Missense_Mutation_p.M243I|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.M231I			Q09FC8	ZN415_HUMAN	zinc finger protein 415	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.M231I(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GACGTACAGTCATGTGTGAGC	0.403000													54	134					0	0	0.870114	0	0
PCLO	27445	broad.mit.edu	37	7	82545543	82545543	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:82545543G>A	ENST00000423517.2	-	7	12096	c.11759C>T	c.(11758-11760)tCa>tTa	p.S3920L	PCLO_ENST00000333891.8_Missense_Mutation_p.S3920L|PCLO_ENST00000437081.1_Missense_Mutation_p.S640L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3851					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						CTGATAAGGTGAAACTTGCTG	0.463000													114	440					0	0	0.870114	0	0
SUCO	51430	broad.mit.edu	37	1	172558197	172558197	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:172558197G>C	ENST00000367723.3	+	17	2536	c.2412G>C	c.(2410-2412)ttG>ttC	p.L804F	SUCO_ENST00000263688.3_Missense_Mutation_p.L652F	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		GAACTGCTTTGAGTAAAGGAA	0.393000													25	43					0	0	0.706142	0	0
JAG1	182	broad.mit.edu	37	20	10653358	10653358	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:10653358G>A	ENST00000254958.5	-	2	893	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	126					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCGGCCAGGCGAAACTGAAAG	0.652000									Alagille Syndrome				23	49					0	0	0.654019	0	0
OSBPL6	114880	broad.mit.edu	37	2	179201157	179201157	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179201157G>A	ENST00000190611.4	+	9	1163	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	OSBPL6_ENST00000409045.3_Missense_Mutation_p.E263K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E263K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E263K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E263K|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E242K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E263K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	263					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CAGGTGTGCAGAAGGTTAGTT	0.493000													51	121					0	0	0.870114	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102047920	102047920	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:102047920G>A	ENST00000496391.1	+	9	1742	c.432G>A	c.(430-432)atG>atA	p.M144I	PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.M87I|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.M144I|PRKRIP1_ENST00000354783.4_Intron			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	144						nucleolus				endometrium(1)|lung(4)|ovary(1)	6						CAAAGAAGATGAAACTTGAAC	0.353000													19	36					0	0	0.624587	0	0
GEN1	348654	broad.mit.edu	37	2	17947933	17947933	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:17947933C>T	ENST00000381254.2	+	5	827	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.L205F	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	205	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCAATACTTCTTGGCTGTGA	0.338000								Homologous recombination					23	95					0	0	0.639603	0	0
POM121L12	285877	broad.mit.edu	37	7	53103598	53103598	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:53103598C>G	ENST00000408890.4	+	1	250	c.234C>G	c.(232-234)atC>atG	p.I78M		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	78										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCACCTCATCGAGGTGCGGC	0.716000													4	27					0	0	0.278610	0	0
AKAP6	9472	broad.mit.edu	37	14	33291388	33291388	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:33291388G>A	ENST00000280979.4	+	13	4539	c.4369G>A	c.(4369-4371)Gaa>Aaa	p.E1457K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1457					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTTGGGAGAAGAATTACAAGG	0.363000													35	28					0	0	0.769981	0	0
TMC1	117531	broad.mit.edu	37	9	75435903	75435903	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:75435903C>T	ENST00000297784.5	+	20	2449	c.1909C>T	c.(1909-1911)Ctg>Ttg	p.L637L	TMC1_ENST00000396237.3_Silent_p.L637L|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Silent_p.L637L	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	637					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TAACTTCTACCTGGGCATGCT	0.493000													107	249					0	0	0.870114	0	0
DNHD1	144132	broad.mit.edu	37	11	6519765	6519765	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6519765T>G	ENST00000254579.6	+	3	884	c.320T>G	c.(319-321)tTc>tGc	p.F107C	DNHD1_ENST00000527990.2_Missense_Mutation_p.F107C|DNHD1_ENST00000354685.3_Missense_Mutation_p.F107C|DNHD1_ENST00000477562.1_3'UTR	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	107					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTGCTGCCCTTCCTGGAGCAG	0.567000													6	306					0	0	0.217242	0	0
FOXC2	2303	broad.mit.edu	37	16	86601587	86601587	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:86601587G>A	ENST00000320354.4	+	1	731	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	216					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GATCAAGAGCGAGGCGGCGTC	0.756000									Late-onset Hereditary Lymphedema				4	2					0	0	0.150653	0	0
ADAM22	53616	broad.mit.edu	37	7	87564431	87564431	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:87564431C>T	ENST00000398204.4	+	2	499	c.176C>T	c.(175-177)tCg>tTg	p.S59L	ADAM22_ENST00000398209.3_Missense_Mutation_p.S59L|ADAM22_ENST00000439864.1_Missense_Mutation_p.S59L|ADAM22_ENST00000265727.7_Missense_Mutation_p.S59L|ADAM22_ENST00000398201.4_Missense_Mutation_p.S59L|ADAM22_ENST00000315984.7_Missense_Mutation_p.S59L	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	59					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATCTACCGCTCGGGCGGCGAA	0.667000													15	52					0	0	0.479597	0	0
CSMD3	114788	broad.mit.edu	37	8	114290824	114290824	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:114290824C>T	ENST00000297405.5	-	3	755	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E131K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E171K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E171K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	171	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTTACCTTCGTAATATACC	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	95					0	0	0.608945	0	0
SLC25A6	293	broad.mit.edu	37	X	1508132	1508132	+	Splice_Site	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:1508132A>G	ENST00000381401.5	-	2	1313		c.e2+1		SLC25A6_ENST00000475167.1_Splice_Site	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6						active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	agccACACGTACCCTTGGCCG	0.632000													9	108					0	0	0.335167	0	0
MEIS3	56917	broad.mit.edu	37	19	47912796	47912796	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:47912796C>A	ENST00000331559.5	-	7	996	c.555G>T	c.(553-555)atG>atT	p.M185I	MEIS3_ENST00000561096.1_Missense_Mutation_p.M290I|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000559524.1_Missense_Mutation_p.M202I|MEIS3_ENST00000441740.2_Missense_Mutation_p.M185I|MEIS3_ENST00000558555.1_Missense_Mutation_p.M202I|MEIS3_ENST00000561293.1_Missense_Mutation_p.M202I	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	202						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CTCGAATCCACATATTATTCT	0.567000													44	124					2.26627e-22	2.42155e-22	0.834066	1	0
SEMG2	6407	broad.mit.edu	37	20	43850534	43850534	+	Missense_Mutation	SNP	G	G	C	rs147702753	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:43850534G>C	ENST00000372769.3	+	2	351	c.261G>C	c.(259-261)ttG>ttC	p.L87F		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	87	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)				AATATGATTTGAATGCCCTAC	0.363000													35	90					0	0	0.769981	0	0
JARID2	3720	broad.mit.edu	37	6	15496939	15496939	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:15496939G>C	ENST00000341776.2	+	7	1727	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q	JARID2_ENST00000541660.1_Missense_Mutation_p.E457Q|JARID2_ENST00000397311.3_Missense_Mutation_p.E323Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	495					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCGCAGTCTGGAGAGGAATCG	0.662000													26	26					0	0	0.729181	0	0
TPK1	27010	broad.mit.edu	37	7	144288620	144288620	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:144288620C>T	ENST00000549981.1	-	9	769	c.46G>A	c.(46-48)Gac>Aac	p.D16N	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000360057.3_Missense_Mutation_p.D133N			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	133					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATAATCTGGTCAAAACGCCCA	0.428000													35	118					0	0	0.804634	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022334	51022334	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:51022334G>A	ENST00000599957.1	-	3	833	c.636C>T	c.(634-636)ctC>ctT	p.L212L	LRRC4B_ENST00000389201.3_Silent_p.L212L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	212						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGCCCAGGTTGAGGTAGCGCA	0.677000													14	23					0	0	0.435327	0	0
TRIM23	373	broad.mit.edu	37	5	64910040	64910040	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:64910040G>C	ENST00000231524.9	-	3	622	c.251C>G	c.(250-252)tCa>tGa	p.S84*	TRIM23_ENST00000381018.3_Nonsense_Mutation_p.S84*|TRIM23_ENST00000274327.7_Nonsense_Mutation_p.S84*	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	84					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CCAGACACCTGAATCACCTAG	0.328000													47	101					0	0	0.870114	0	0
VPS13A	23230	broad.mit.edu	37	9	79834959	79834959	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:79834959G>C	ENST00000360280.3	+	11	1104	c.844G>C	c.(844-846)Gag>Cag	p.E282Q	VPS13A_ENST00000376634.4_Missense_Mutation_p.E282Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.E282Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.E282Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	282					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTGGAAATTGAGTTACATAA	0.294000													37	85					0	0	0.788014	0	0
CACNA1C	775	broad.mit.edu	37	12	2774834	2774834	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:2774834G>C	ENST00000399655.1	+	36	4751	c.4486G>C	c.(4486-4488)Gag>Cag	p.E1496Q	CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1521Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1485Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1516Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1518Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E1544Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1485Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1483Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1513Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1524Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1544	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCACCTGGATGAGTTTAAAAG	0.493000													29	56					0	0	0.706142	0	0
WFIKKN1	117166	broad.mit.edu	37	16	682690	682690	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:682690G>A	ENST00000319070.2	+	2	602	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	94						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				GGCCTCCTGCGAGGGCTTTGT	0.682000													5	14					0	0	0.217242	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859411	149859411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:149859411G>T	ENST00000331128.3	-	1	55	c.56C>A	c.(55-57)tCg>tAg	p.S19*		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	19					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGCGCGGGACGAGCGCGACTT	0.622000													58	125					3.30712e-30	3.56151e-30	0.870114	1	0
DOPEY1	23033	broad.mit.edu	37	6	83848789	83848789	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:83848789G>C	ENST00000349129.2	+	21	5288	c.5028G>C	c.(5026-5028)caG>caC	p.Q1676H	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q1667H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q1657H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1676					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGTTCTGCAGAGAGTGGTTG	0.403000													3	124					0	0	0.115264	0	0
HECTD4	283450	broad.mit.edu	37	12	112711540	112711540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:112711540G>A	ENST00000550722.1	-	11	1824	c.1429C>T	c.(1429-1431)Cag>Tag	p.Q477*	HECTD4_ENST00000430131.2_Nonsense_Mutation_p.Q189*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.Q439*	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TTACACCACTGATCGATATAG	0.473000													51	136					0	0	0.870114	0	0
ZNF358	140467	broad.mit.edu	37	19	7585641	7585641	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:7585641G>A	ENST00000597229.1	+	2	1683	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	ZNF358_ENST00000394341.2_Missense_Mutation_p.D505N	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	505					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CGCTGGTCCCGACCTTGTGCC	0.652000													33	97					0	0	0.760397	0	0
METTL21A	151194	broad.mit.edu	37	2	208477997	208477997	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:208477997C>T	ENST00000411432.1	-	4	646	c.430G>A	c.(430-432)Gat>Aat	p.D144N	METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000426075.1_Missense_Mutation_p.D144N|METTL21A_ENST00000448007.2_Missense_Mutation_p.D144N|METTL21A_ENST00000442521.1_Missense_Mutation_p.D144N|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000406927.2_Missense_Mutation_p.D144N|METTL21A_ENST00000272839.3_Missense_Mutation_p.D162N	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	144						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						TATATGATATCAGCACCAAGT	0.393000													56	122					0	0	0.870114	0	0
KEAP1	9817	broad.mit.edu	37	19	10610625	10610625	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10610625C>G	ENST00000171111.5	-	2	632	c.85G>C	c.(85-87)Gac>Cac	p.D29H	KEAP1_ENST00000393623.2_Missense_Mutation_p.D29H	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ATCACCGCGTCCCCTGCCCCC	0.642000													38	124					0	0	0.796494	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916572	86916572	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:86916572G>A	ENST00000395184.1	+	9	2231	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.E496K|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.E494K	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	589					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GGGGAACTTTGAGGACCCTGT	0.557000													51	130					0	0	0.870114	0	0
TMPRSS5	80975	broad.mit.edu	37	11	113563881	113563881	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:113563881C>G	ENST00000299882.5	-	9	1024	c.876G>C	c.(874-876)gaG>gaC	p.E292D	TMPRSS5_ENST00000544634.1_Missense_Mutation_p.E223D|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.E283D|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.E179D|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.E248D|TMPRSS5_ENST00000545265.1_5'UTR|TMPRSS5_ENST00000540540.1_Missense_Mutation_p.E33D|TMPRSS5_ENST00000536856.1_Missense_Mutation_p.E33D	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	292	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		GGATAATCCTCTCCACCAGAG	0.637000													6	9					0	0	0.217242	0	0
WDFY3	23001	broad.mit.edu	37	4	85617288	85617288	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:85617288G>C	ENST00000322366.6	-	57	9092	c.8685C>G	c.(8683-8685)gaC>gaG	p.D2895E	WDFY3_ENST00000295888.4_Missense_Mutation_p.D2912E			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2912	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CGAAGATTAAGTCAATCCACT	0.408000													51	169					0	0	0.870114	0	0
NAT16	375607	broad.mit.edu	37	7	100815677	100815677	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100815677C>G	ENST00000300303.2	-	4	1031	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	NAT16_ENST00000455377.1_Missense_Mutation_p.E265Q	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	265							N-acetyltransferase activity										ACGCGCCACTCCAGGCCCTTG	0.711000													3	10					0	0	0.115264	0	0
CLEC1A	51267	broad.mit.edu	37	12	10251525	10251525	+	Translation_Start_Site	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10251525G>C	ENST00000315330.4	-	0	59				CLEC1A_ENST00000457018.2_De_novo_Start_InFrame|CLEC1A_ENST00000420265.2_De_novo_Start_InFrame	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CCTGCATCTGGATTCCTACAG	0.552000													14	14					0	0	0.457914	0	0
SIK1	150094	broad.mit.edu	37	21	44841567	44841567	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:44841567G>C	ENST00000270162.6	-	5	582	c.450C>G	c.(448-450)ctC>ctG	p.L150L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	150	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TCTCGGTCTTGAGGTCCCGGT	0.617000													12	51					0	0	0.435327	0	0
DACT3	147906	broad.mit.edu	37	19	47151760	47151760	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:47151760G>C	ENST00000391916.2	-	4	1942	c.1869C>G	c.(1867-1869)ctC>ctG	p.L623L	DACT3_ENST00000300875.4_Silent_p.L398L	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	623										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		TCATGACCTTGAGAGAACCCG	0.562000													108	372					0	0	0.870114	0	0
GALNT10	55568	broad.mit.edu	37	5	153755896	153755896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:153755896C>T	ENST00000297107.6	+	5	765	c.628C>T	c.(628-630)Cga>Tga	p.R210*	GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Nonsense_Mutation_p.R210*	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	210	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R210*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAGGATTCTTCGAACCAAGAA	0.502000													60	179					0	0	0.870114	0	0
VWA8	23078	broad.mit.edu	37	13	42393495	42393495	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:42393495G>A	ENST00000379310.3	-	15	1796	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	VWA8_ENST00000281496.6_Silent_p.F576F	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CAATGATTCTGAAGGAGGGAT	0.368000													22	66					0	0	0.639603	0	0
CLIC6	54102	broad.mit.edu	37	21	36079593	36079593	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:36079593G>C	ENST00000360731.3	+	3	1444	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	CLIC6_ENST00000349499.2_Missense_Mutation_p.E464Q			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	482						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TTATGATGGTGAGAGTATCGG	0.423000													20	78					0	0	0.608945	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135106655	135106655	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:135106655C>T	ENST00000368563.2	-	7	1268	c.912G>A	c.(910-912)ctG>ctA	p.L304L	TUBGCP2_ENST00000543663.1_Silent_p.L332L|TUBGCP2_ENST00000252936.3_Silent_p.L304L|TUBGCP2_ENST00000417178.2_Silent_p.L174L	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	304					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACACCAGAATCAGGTGCTCCT	0.592000													53	43					0	0	0.870114	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499414	34499414	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:34499414G>A	ENST00000538621.1	+	9	1320	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	PACSIN1_ENST00000374043.2_Missense_Mutation_p.E317K|PACSIN1_ENST00000244458.2_Missense_Mutation_p.E359K	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	359					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTACGCCACCGAGTGGTCAGA	0.647000													5	187					0	0	0.217242	0	0
BBX	56987	broad.mit.edu	37	3	107520042	107520042	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:107520042G>C	ENST00000416476.2	+	16	1863	c.1643G>C	c.(1642-1644)gGa>gCa	p.G548A	BBX_ENST00000402543.1_Silent_p.R834R|BBX_ENST00000406780.1_Silent_p.R854R|BBX_ENST00000415149.2_Silent_p.R854R|BBX_ENST00000325805.8_Silent_p.R884R			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GGGAGACGCGGAGCAGTACTC	0.527000													41	46					0	0	0.812448	0	0
CPLX4	339302	broad.mit.edu	37	18	56964048	56964048	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:56964048G>C	ENST00000299721.3	-	3	551	c.365C>G	c.(364-366)tCt>tGt	p.S122C	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	122					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CCCAAGAATAGAATCTTTATC	0.428000													19	57					0	0	0.557998	0	0
PDIA3	2923	broad.mit.edu	37	15	44058971	44058971	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:44058971C>G	ENST00000300289.5	+	8	1039	c.891C>G	c.(889-891)ctC>ctG	p.L297L	PDIA3_ENST00000538521.1_Silent_p.L277L	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	297					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGCACAAACTCAACTTTGCTG	0.458000													19	47					0	0	0.575678	0	0
ZNF331	55422	broad.mit.edu	37	19	54080889	54080889	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:54080889G>C	ENST00000253144.9	+	7	2408	c.1075G>C	c.(1075-1077)Gaa>Caa	p.E359Q	ZNF331_ENST00000449416.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000411977.2_Missense_Mutation_p.E359Q|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000511593.2_Missense_Mutation_p.E359Q|ZNF331_ENST00000513999.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000512387.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000511154.1_Missense_Mutation_p.E359Q	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CAAGTGCACAGAATGTGGGAA	0.527000			T	?	follicular thyroid adenoma								22	64					0	0	0.639603	0	0
CACNA1G	8913	broad.mit.edu	37	17	48649387	48649387	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48649387G>A	ENST00000352832.5	+	5	1107	c.735G>A	c.(733-735)gaG>gaA	p.E245E	CACNA1G_ENST00000510115.1_Silent_p.E245E|CACNA1G_ENST00000513964.1_Silent_p.E245E|CACNA1G_ENST00000359106.5_Silent_p.E245E|CACNA1G_ENST00000512389.1_Silent_p.E245E|CACNA1G_ENST00000513689.2_Silent_p.E245E|CACNA1G_ENST00000514079.1_Silent_p.E245E|CACNA1G_ENST00000507510.2_Silent_p.E245E|CACNA1G_ENST00000507336.1_Silent_p.E245E|CACNA1G_ENST00000358244.5_Silent_p.E245E|CACNA1G_ENST00000360761.4_Silent_p.E245E|CACNA1G_ENST00000514181.1_Silent_p.E245E|CACNA1G_ENST00000354983.4_Silent_p.E245E|CACNA1G_ENST00000507609.1_Silent_p.E245E|CACNA1G_ENST00000503485.1_Silent_p.E245E|CACNA1G_ENST00000502264.1_Silent_p.E245E|CACNA1G_ENST00000507896.1_Silent_p.E245E|CACNA1G_ENST00000416767.4_Silent_p.E245E|CACNA1G_ENST00000505165.1_Silent_p.E245E|CACNA1G_ENST00000515765.1_Silent_p.E245E|CACNA1G_ENST00000429973.2_Silent_p.E245E|CACNA1G_ENST00000442258.2_Silent_p.E245E|CACNA1G_ENST00000515411.1_Silent_p.E245E|CACNA1G_ENST00000515165.1_Silent_p.E245E|CACNA1G_ENST00000514717.1_Silent_p.E245E|CACNA1G_ENST00000510366.1_Silent_p.E245E	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	245					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCTACCTGAGAATTTCAGCC	0.597000													13	44					0	0	0.457914	0	0
POSTN	10631	broad.mit.edu	37	13	38153456	38153456	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:38153456C>T	ENST00000379747.4	-	13	1818	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L	POSTN_ENST00000379749.4_Silent_p.L567L|POSTN_ENST00000541481.1_Silent_p.L567L|POSTN_ENST00000379742.4_Silent_p.L567L|POSTN_ENST00000379743.4_Silent_p.L567L|POSTN_ENST00000541179.1_Silent_p.L567L	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	567	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCCTGGTGTCAGGTGATAAA	0.323000													8	127					0	0	0.278610	0	0
WNK4	65266	broad.mit.edu	37	17	40948596	40948596	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:40948596G>A	ENST00000246914.5	+	18	3750	c.3729_splice	c.e18+1	p.1243_splice		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	0					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTGGCAGGATGGTGAGGGCGG	0.607000													19	74					0	0	0.557998	0	0
DNAJC30	84277	broad.mit.edu	37	7	73097515	73097515	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:73097515C>T	ENST00000395176.2	-	1	268	c.239G>A	c.(238-240)cGc>cAc	p.R80H	WBSCR22_ENST00000464615.1_3'UTR	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	80	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)	4						CCCGGAGTTGCGGTCCGGGTG	0.667000													4	133					0	0	0.150653	0	0
IL17RA	23765	broad.mit.edu	37	22	17583169	17583169	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:17583169G>C	ENST00000319363.6	+	7	872	c.739G>C	c.(739-741)Gag>Cag	p.E247Q		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	247					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CAGTTGCTTTGAGCACATGCA	0.547000													56	145					0	0	0.870114	0	0
EIF4G1	1981	broad.mit.edu	37	3	184033995	184033995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:184033995C>T	ENST00000342981.4	+	3	550	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.Q6*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.Q46*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000427845.1_Intron|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.Q6*|EIF4G1_ENST00000392537.2_Intron|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.Q46*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	46					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACGCCTTCTCAGCCCCGCCA	0.617000													12	114					0	0	0.435327	0	0
PPP4R1	9989	broad.mit.edu	37	18	9570206	9570206	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:9570206C>A	ENST00000400556.3	-	11	1595	c.1522G>T	c.(1522-1524)Gaa>Taa	p.E508*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.E491*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	508					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						ATCATTTCTTCCAGTTCCTTT	0.428000													53	174					1.54043e-34	1.66914e-34	0.870114	1	0
FIGN	55137	broad.mit.edu	37	2	164466133	164466133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:164466133G>A	ENST00000333129.3	-	3	2523	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	737						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATGCTAGGCTGAATCTTGCAG	0.413000													27	113					0	0	0.681144	0	0
TRAF7	84231	broad.mit.edu	37	16	2222339	2222339	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2222339G>A	ENST00000326181.6	+	8	755	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	208					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GTGGACCCCCGAGGGTGCCCC	0.687000													9	34					0	0	0.335167	0	0
C9orf131	138724	broad.mit.edu	37	9	35043827	35043827	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:35043827G>C	ENST00000312292.5	+	2	1248	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	C9orf131_ENST00000354479.5_Missense_Mutation_p.E328Q|C9orf131_ENST00000421362.2_Missense_Mutation_p.E353Q	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	401										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACTCCAGAGAGAGAGTTCCCT	0.532000													4	153					0	0	0.150653	0	0
DDHD1	80821	broad.mit.edu	37	14	53513591	53513591	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:53513591C>T	ENST00000357758.3	-	12	2697	c.2514G>A	c.(2512-2514)tcG>tcA	p.S838S	DDHD1_ENST00000323669.5_Silent_p.S866S|DDHD1_ENST00000395606.1_Silent_p.S845S	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	866	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AGGCAGTATGCGACGTGACAG	0.408000													4	116					0	0	0.184627	0	0
KCNA4	3739	broad.mit.edu	37	11	30033388	30033388	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:30033388C>T	ENST00000328224.6	-	2	2071	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	280						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GCCCTGTCTTCCTCTTCTCTC	0.507000													32	95					0	0	0.729181	0	0
PTK2	5747	broad.mit.edu	37	8	141828403	141828403	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:141828403G>C	ENST00000522684.1	-	10	1069	c.840C>G	c.(838-840)atC>atG	p.I280M	PTK2_ENST00000519419.1_Missense_Mutation_p.I324M|PTK2_ENST00000340930.3_Missense_Mutation_p.I280M|PTK2_ENST00000521059.1_Missense_Mutation_p.I280M|PTK2_ENST00000535192.1_Missense_Mutation_p.I280M|PTK2_ENST00000395218.2_Missense_Mutation_p.I280M|PTK2_ENST00000517887.1_Missense_Mutation_p.I324M	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	280	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTAGGTAACTGATTCCTTCTT	0.438000													43	120					0	0	0.859065	0	0
PHLDB1	23187	broad.mit.edu	37	11	118499169	118499169	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:118499169C>T	ENST00000361417.2	+	7	2041	c.1630C>T	c.(1630-1632)Ctg>Ttg	p.L544L	PHLDB1_ENST00000356063.5_Silent_p.L544L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	544										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)		AGCCTACAGTCTGGGCTCTCT	0.642000													11	24					0	0	0.361761	0	0
SCN1A	6323	broad.mit.edu	37	2	166848631	166848631	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:166848631G>C	ENST00000423058.2	-	26	5171	c.5154C>G	c.(5152-5154)ttC>ttG	p.F1718L	SCN1A_ENST00000409050.1_Missense_Mutation_p.F1690L|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.F1718L|SCN1A_ENST00000375405.3_Missense_Mutation_p.F1707L|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1718						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)	TTGTAATTTGGAATAGGCAGA	0.468000													48	239					0	0	0.870114	0	0
SNRNP70	6625	broad.mit.edu	37	19	49611111	49611111	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:49611111G>A	ENST00000221448.5	+	10	894	c.698G>A	c.(697-699)aGa>aAa	p.R233K	SNRNP70_ENST00000598441.1_Missense_Mutation_p.R242K	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	242	Arg/Glu-rich (mixed charge).				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CGGGAGCGCAGAGAGCGGAGC	0.746000													4	9					0	0	0.150653	0	0
UBAP2L	9898	broad.mit.edu	37	1	154197669	154197669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:154197669C>T	ENST00000428931.1	+	2	237	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.Q24*|UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.Q24*|UBAP2L_ENST00000361546.2_Nonsense_Mutation_p.Q24*	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	24					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAACCAGACACAGCACAAGCA	0.453000													6	66					0	0	0.307466	0	0
THAP5	168451	broad.mit.edu	37	7	108204874	108204874	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:108204874C>G	ENST00000415914.3	-	3	1102	c.949G>C	c.(949-951)Gtt>Ctt	p.V317L	THAP5_ENST00000313516.5_Missense_Mutation_p.V275L|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	317					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						ATTTGTAAAACTTCTGTCCCA	0.348000													54	191					0	0	0.870114	0	0
KCTD21	283219	broad.mit.edu	37	11	77884871	77884871	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:77884871G>A	ENST00000340067.3	-	2	1008	c.730C>T	c.(730-732)Cat>Tat	p.H244Y	KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	244						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TCCAGAGCATGTGGGTGAGAA	0.478000													66	241					0	0	0.870114	0	0
DPM1	8813	broad.mit.edu	37	20	49552791	49552791	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:49552791C>T	ENST00000371582.4	-	9	684	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371588.5_Missense_Mutation_p.R191Q|DPM1_ENST00000371583.5_Missense_Mutation_p.R186Q|RP5-914P20.5_ENST00000558899.2_RNA			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	191					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AACTTCTTTTCGGTATAATCT	0.318000													21	54					0	0	0.575678	0	0
TLE1	7088	broad.mit.edu	37	9	84205745	84205745	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:84205745C>G	ENST00000376499.3	-	16	2868	c.1804G>C	c.(1804-1806)Gat>Cat	p.D602H		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	602					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TTGTGCAGATCCCACACAGCG	0.597000													46	130					0	0	0.864702	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123173693	123173693	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:123173693G>C	ENST00000349780.4	-	29	4536	c.4357C>G	c.(4357-4359)Cat>Gat	p.H1453D	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.H1412D|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.H1421D|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.H1453D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1453					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.H1453Y(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCAAGAAATGAATTTCTGAT	0.398000													6	206					0	0	0.217242	0	0
WDYHV1	55093	broad.mit.edu	37	8	124449572	124449572	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:124449572G>C	ENST00000523984.1	+	5	554	c.326G>C	c.(325-327)gGa>gCa	p.G109A	WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_Missense_Mutation_p.G169A|WDYHV1_ENST00000518125.1_Missense_Mutation_p.G21A|WDYHV1_ENST00000287387.2_Missense_Mutation_p.G169A			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	169					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						ATTGAGACTGGAGGTGAGCCA	0.458000													7	69					0	0	0.520397	0	0
USH2A	7399	broad.mit.edu	37	1	216498758	216498758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:216498758delA	ENST00000366943.2	-	6	1418	c.1032delT	c.(1030-1032)ttfs	p.F344fs	USH2A_ENST00000366942.3_Frame_Shift_Del_p.F344fs|USH2A_ENST00000307340.3_Frame_Shift_Del_p.F344fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	344	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATCATTGACAAAAGAGAGAG	0.408										HNSCC(13;0.011)			48	116	---	---	---	---					
PLXNA1	5361	broad.mit.edu	37	3	126736358	126736358	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:126736358delC	ENST00000393409.2	+	17	3367	c.3367delC	c.(3367-3369)cgfs	p.P1123fs	PLXNA1_ENST00000251772.4_Frame_Shift_Del_p.P1100fs	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1123	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGGGGAGCGGCCGGATGAGCT	0.637													84	167	---	---	---	---					
LOC152578	152578	broad.mit.edu	37	4	53661752	53661765	+	RNA	DEL	AAGAAAGAGAGAGA	AAGAAAGAGAGAGA	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:53661752_53661765delAAGAAAGAGAGAGA	ENST00000514957.1	+	0	321					NR_040106.1																						ggaaggaaggaagaaagagagagaaagaaagaga	0.407													3	4	---	---	---	---					
DCHS2	54798	broad.mit.edu	37	4	155155862	155155862	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:155155862delG	ENST00000357232.3	-	25	8576	c.8577delC	c.(8575-8577)ccfs	p.P2859fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2859					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGATGGTAGGGGATGGGAG	0.542													47	189	---	---	---	---					
FAM120B	84498	broad.mit.edu	37	6	170627660	170627695	+	In_Frame_Del	DEL	CCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA	CCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA	-	rs148592361	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:170627660_170627695delCCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA	ENST00000476287.1	+	2	1290_1325	c.1182_1217delCCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA	c.(1180-1218)ggc>gg	p.GPESRREVPMCSD394del	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_In_Frame_Del_p.GPESRREVPMCSD406del|FAM120B_ENST00000537664.1_In_Frame_Del_p.GPESRREVPMCSD417del	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	394					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.G394fs*81(1)|p.S397F(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CGTGTACAGGCCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGACCCTGAACCC	0.530													156	417	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN								nucleus	binding	p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													2	4	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													5	4	---	---	---	---					
EPPK1	83481	broad.mit.edu	37	8	144942429	144942435	+	Frame_Shift_Del	DEL	GGAAGAG	GGAAGAG	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:144942429_144942435delGGAAGAG	ENST00000525985.1	-	2	5058_5064	c.4987_4993delCTCTTCC	c.(4987-4995)agfs	p.LFQ1663fs				P58107	EPIPL_HUMAN	epiplakin 1	1663						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCATGGCCTGGAAGAGGGAGATCTGC	0.647													22	161	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													12	80	---	---	---	---					
DPAGT1	1798	broad.mit.edu	37	11	118971068	118971069	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:118971068_118971069insA	ENST00000409993.2	-	6	2097_2098	c.546_547insT	c.(544-549)aaccatfs	p.H183fs	DPAGT1_ENST00000432443.2_Frame_Shift_Ins_p.H76fs|DPAGT1_ENST00000354202.4_Frame_Shift_Ins_p.H183fs			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	183					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATATTGATGGCATTGGTACAGA	0.500											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	124	---	---	---	---					
TRAV12-3	28672	broad.mit.edu	37	14	22433684	22433684	+	RNA	DEL	T	T	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:22433684delT	ENST00000390442.3	+	0	5																											TTTGTTATTATTTTTTTTTCG	0.353													36	24	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25474009	25474009	+	RNA	DEL	G	G	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:25474009delG	ENST00000453082.2	+	0	1321					NR_003343.1																						CCTCTGGTGCGCTGAAACTCT	0.597													11	48	---	---	---	---					
FUS	2521	broad.mit.edu	37	16	31193962	31193962	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:31193962delC	ENST00000254108.7	+	3	272	c.167delC	c.(166-168)ttfs	p.S57fs	RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000380244.3_Frame_Shift_Del_p.S57fs|FUS_ENST00000568685.1_Frame_Shift_Del_p.S57fs	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	57	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		AGCAGCTATTCTTCTTATGGC	0.493			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								7	213	---	---	---	---					
FBXO31	79791	broad.mit.edu	37	16	87367559	87367560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:87367559_87367560insC	ENST00000311635.7	-	8	1341_1342	c.1329_1330insG	c.(1327-1332)ggagccfs	p.A444fs	RP11-178L8.4_ENST00000568879.1_Frame_Shift_Ins_p.E107fs	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	444					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ACGAACGGCTGCCCCTGCCCAC	0.678													8	85	---	---	---	---					
SMURF2P1	0	broad.mit.edu	37	17	28985813	28985814	+	RNA	INS	-	-	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:28985813_28985814insA	ENST00000578265.1	+	0	377																											aaggaaggaagggctgggcgca	0.535													4	7	---	---	---	---					
TMEM132E	124842	broad.mit.edu	37	17	32962027	32962027	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:32962027delG	ENST00000321639.5	+	8	1956	c.1628delG	c.(1627-1629)cgfs	p.R543fs		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	543						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GACTTCATGCGGGTGGGCGAT	0.617													23	80	---	---	---	---					
ACSF2	80221	broad.mit.edu	37	17	48551078	48551082	+	Frame_Shift_Del	DEL	AAGGA	AAGGA	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48551078_48551082delAAGGA	ENST00000427954.2	+	14	1646_1650	c.1603_1607delAAGGA	c.(1603-1608)tfs	p.KD535fs	ACSF2_ENST00000300441.4_Frame_Shift_Del_p.KD510fs|ACSF2_ENST00000502667.1_Frame_Shift_Del_p.KD497fs|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000541920.1_Frame_Shift_Del_p.KD350fs|ACSF2_ENST00000504392.1_Frame_Shift_Del_p.KD467fs			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	510					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGGCCGCTCTAAGGATATGATCATC	0.551													36	153	---	---	---	---					
BCL3	602	broad.mit.edu	37	19	45262812	45262813	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:45262812_45262813insG	ENST00000164227.5	+	9	1549_1550	c.1305_1306insG	c.(1303-1308)gcgggtfs	p.AG435fs		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	435	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				TGCCCTTTGCTGGGGTCCTCCG	0.688			T	IGH@	CLL								68	270	---	---	---	---					
SIGLEC14	100049587	broad.mit.edu	37	19	52149128	52149129	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52149128_52149129insG	ENST00000360844.6	-	3	647_648	c.606_607insC	c.(604-609)ccggccfs	p.A203fs	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	203	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCCTCGGGCCTGGGGGTGAGGG	0.634													10	49	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41196718	41196719	+	Splice_Site	INS	-	-	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:41196718_41196719insG	ENST00000399959.2	+	2	958	c.103_splice	c.e2+1	p.K35_splice	DDX3X_ENST00000542215.1_Splice_Site_p.K79_splice|DDX3X_ENST00000441189.2_Splice_Site_p.K35_splice|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Splice_Site_p.V35_splice	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	35					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TACAGCCAGCAGTAAGTACAAC	0.371										HNSCC(61;0.18)			35	49	---	---	---	---					
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>cGCCGCCcc	p.109_110insRR	FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	109										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													4	3	---	---	---	---					
VSIG4	11326	broad.mit.edu	37	X	65242121	65242121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:65242121delC	ENST00000374737.4	-	8	1292	c.1184delG	c.(1183-1185)gcfs	p.G395fs	VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Frame_Shift_Del_p.G301fs	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	395					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACACTTTTGCCCTCAGTGGC	0.512													36	31	---	---	---	---					
HEPH	9843	broad.mit.edu	37	X	65479995	65479995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:65479995delG	ENST00000519389.1	+	19	3431	c.3252delG	c.(3250-3252)gafs	p.E1084fs	HEPH_ENST00000343002.2_Frame_Shift_Del_p.E1030fs|HEPH_ENST00000374727.3_Frame_Shift_Del_p.E1033fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.E763fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.E841fs|HEPH_ENST00000441993.2_Frame_Shift_Del_p.E1033fs			Q9BQS7	HEPH_HUMAN	hephaestin	1030	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGACTTTTGAGGTTGTGGAGA	0.517													38	43	---	---	---	---					
XIST	7503	broad.mit.edu	37	X	73067240	73067240	+	RNA	DEL	T	T	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:73067240delT	ENST00000429829.1	-	0	5348					NR_001564.2																						ATTGTCTTACttttttttttt	0.478													3	4	---	---	---	---					
