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
MST1P9	11223	broad.mit.edu	37	1	17085872	17085872	+	Missense_Mutation	SNP	A	A	G	rs1806514	by1000genomes	TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr1:17085872A>G	uc010ock.2	-	7	949	c.949T>C	c.(949-951)Tgg>Cgg	p.W317R	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.W307R(1)|p.W317R(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TCGAGGTTCCAGCAGAAGTTC	0.662												
CYP4B1	1580	broad.mit.edu	37	1	47282802	47282802	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr1:47282802C>T	uc001cqn.4	+	8	1240	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	CYP4B1_uc001cqm.4_Missense_Mutation_p.R385C|CYP4B1_uc009vym.3_Missense_Mutation_p.R371C|CYP4B1_uc010omk.2_Missense_Mutation_p.R222C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	385					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCAGGTGTACCGCCAGCTCAG	0.572												
PLXNA2	5362	broad.mit.edu	37	1	208269395	208269395	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr1:208269395T>G	uc001hgz.3	-	7	2719	c.1961A>C	c.(1960-1962)tAc>tCc	p.Y654S		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	654					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)		ACTGCAGTTGTAAAACTTGAA	0.478												
CACNB2	783	broad.mit.edu	37	10	18828173	18828173	+	Silent	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:18828173T>C	uc001ipr.2	+	13	1563	c.1503T>C	c.(1501-1503)gaT>gaC	p.D501D	CACNB2_uc001ipt.2_Silent_p.D463D|CACNB2_uc009xjz.1_Silent_p.D251D|CACNB2_uc001ips.2_Silent_p.D477D|CACNB2_uc001ipu.3_Silent_p.D473D|CACNB2_uc001ipv.3_Silent_p.D449D|CACNB2_uc009xka.2_Silent_p.D435D|CACNB2_uc001ipw.2_Silent_p.D408D|CACNB2_uc001ipx.2_Silent_p.D446D|CACNB2_uc001ipz.2_Silent_p.D423D|CACNB2_uc001ipy.2_Silent_p.D447D|CACNB2_uc010qco.1_Silent_p.D415D|CACNB2_uc001iqa.2_Silent_p.D453D|NSUN6_uc001iqb.3_Non-coding_Transcript	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	501				D -> H (in Ref. 3; AAD33729/AAD33730).	axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCAAGGTGATCAGAGGACTG	0.527												
ACTA2	59	broad.mit.edu	37	10	90707027	90707027	+	Silent	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:90707027G>A	uc001kfp.3	-	2	362	c.246C>T	c.(244-246)gaC>gaT	p.D82D	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Silent_p.D37D|ACTA2_uc001kfq.3_Silent_p.D82D|ACTA2_uc010qmz.1_Silent_p.D82D	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	82					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTTCCATGTCGTCCCAGTTGG	0.502												
HTR7	3363	broad.mit.edu	37	10	92616992	92616992	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:92616992C>T	uc001kha.3	-	0	680	c.437G>A	c.(436-438)gGc>gAc	p.G146D	HTR7_uc001kgz.3_Missense_Mutation_p.G146D|HTR7_uc001khb.3_Missense_Mutation_p.G146D	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	146					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GATCCACTTGCCCCCGATGAG	0.592												
OR52N1	79473	broad.mit.edu	37	11	5809262	5809262	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:5809262A>G	uc010qzo.2	-	0	785	c.785T>C	c.(784-786)tTt>tCt	p.F262S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATGGTGTGTAAAGAAGGTAAA	0.453												
NAV2	89797	broad.mit.edu	37	11	20065785	20065785	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:20065785G>A	uc010rdm.2	+	13	3596	c.3235G>A	c.(3235-3237)Gcc>Acc	p.A1079T	NAV2_uc001mpp.3_Missense_Mutation_p.A992T|NAV2_uc001mpr.4_Missense_Mutation_p.A1056T|NAV2_uc021qew.1_Missense_Mutation_p.A1056T|NAV2_uc001mpt.2_Missense_Mutation_p.A142T|NAV2_uc009yhx.3_Missense_Mutation_p.A142T|NAV2_uc009yhy.1_Missense_Mutation_p.A55T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1079						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAGCCTTCAGCCCCGGCAGG	0.567												
TM7SF2	7108	broad.mit.edu	37	11	64882420	64882420	+	Silent	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:64882420C>T	uc001ocv.3	+	4	1419	c.822C>T	c.(820-822)gaC>gaT	p.D274D	TM7SF2_uc001oct.3_Silent_p.D253D|TM7SF2_uc010rny.2_Silent_p.D137D|TM7SF2_uc001ocu.3_Silent_p.D253D|BC104003_uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	253					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCACACATGACGGGTTTGGCT	0.627												
KCNE3	10008	broad.mit.edu	37	11	74168386	74168386	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:74168386G>A	uc021qng.1	-	0	223	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	KCNE3_uc001ovc.3_Missense_Mutation_p.L75F|KCNE3_uc001ovd.2_Missense_Mutation_p.L75F	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA.	75						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CCCAGGATGAGGCTGCCCACA	0.512												
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr12:11546506_11546508delTTG	uc010shk.1	-	2	539_541	c.504_506delCAA	c.(502-507)aacaag>aag	p.N168del		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596												
HIP1R	9026	broad.mit.edu	37	12	123339938	123339938	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr12:123339938G>A	uc001udj.1	+	10	1038	c.979G>A	c.(979-981)Gcg>Acg	p.A327T	HIP1R_uc001udg.1_Missense_Mutation_p.A315T|HIP1R_uc001udi.1_Missense_Mutation_p.A327T|HIP1R_uc001udk.1_5'Flank	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	327					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AGGGCCCCCCGCGGGGGAGCC	0.677												
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:23914687delT	uc001uon.2	-	9	3917	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_uc001uoo.2_Frame_Shift_Del_p.I963fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1110					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383												
TNFRSF19	55504	broad.mit.edu	37	13	24233260	24233260	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:24233260G>A	uc001uov.2	+	5	721	c.517G>A	c.(517-519)Gtt>Att	p.V173I	TNFRSF19_uc001uot.3_Missense_Mutation_p.V173I|TNFRSF19_uc010tcu.2_Missense_Mutation_p.V41I|TNFRSF19_uc001uow.3_Missense_Mutation_p.V173I	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	173					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GCTGGCTGCCGTTATCTGCAG	0.577												
COG6	57511	broad.mit.edu	37	13	40268775	40268775	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:40268775G>T	uc001uxh.2	+	11	1179	c.1079G>T	c.(1078-1080)cGa>cTa	p.R360L	COG6_uc001uxi.2_Missense_Mutation_p.R308L|COG6_uc010acb.2_Missense_Mutation_p.R360L	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	360					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TAATAGGTTCGAATTGAGCAA	0.274												
DGKH	160851	broad.mit.edu	37	13	42761271	42761271	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:42761271C>T	uc001uyl.2	+	13	1692	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V	DGKH_uc010tfh.2_Missense_Mutation_p.A542V|DGKH_uc001uym.2_Missense_Mutation_p.A542V|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.A297V|DGKH_uc001uyo.2_Missense_Mutation_p.A406V|DGKH_uc010tfj.2_Missense_Mutation_p.A406V|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	542					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.A542V(2)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTAGCTGATGCCGTGGCCAGT	0.423												
OR4K1	79544	broad.mit.edu	37	14	20404282	20404282	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:20404282G>A	uc001vwj.2	+	0	516	c.457G>A	c.(457-459)Gtt>Att	p.V153I		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCGGTGGGCGTTCTTCATTC	0.453												
NIN	51199	broad.mit.edu	37	14	51239180	51239180	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:51239180C>T	uc001wyi.3	-	8	1011	c.820G>A	c.(820-822)Gat>Aat	p.D274N	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.D274N|NIN_uc001wyk.3_Missense_Mutation_p.D274N|NIN_uc001wyo.3_Missense_Mutation_p.D274N|NIN_uc001wyp.1_Missense_Mutation_p.D236N	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	274					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCACTCTCATCGAAAGACTGG	0.502			T	PDGFRB	MPD							
SYT16	83851	broad.mit.edu	37	14	62567295	62567295	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:62567295G>A	uc001xfu.1	+	5	2005	c.1808G>A	c.(1807-1809)cGt>cAt	p.R603H	SYT16_uc010tse.1_Missense_Mutation_p.R161H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	603	C2 2.							p.R583H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACTATGAAGCGTAAAGAGATG	0.483												
DCAF5	8816	broad.mit.edu	37	14	69520671	69520671	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:69520671C>T	uc001xkp.3	-	8	2951	c.2732G>A	c.(2731-2733)aGg>aAg	p.R911K	DCAF5_uc001xkq.3_Missense_Mutation_p.R910K	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	911						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ATGAACAGCCCTGCTACTATC	0.473												
ADAM21P1	145241	broad.mit.edu	37	14	70712661	70712661	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:70712661G>C	uc010ttg.2	-	0	1858	c.1207C>G	c.(1207-1209)Ctt>Gtt	p.L403V						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		TCTTGGAGAAGAGGAATGTCT	0.398												
EIF2AK4	440275	broad.mit.edu	37	15	40280263	40280263	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:40280263T>C	uc001zkm.1	+	14	2533	c.2483T>C	c.(2482-2484)cTt>cCt	p.L828P	EIF2AK4_uc010bbj.1_Missense_Mutation_p.L529P	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	828	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTCTGGAGGCTTTTTCGAGAG	0.393												
EHD4	30844	broad.mit.edu	37	15	42193062	42193062	+	Silent	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:42193062G>A	uc001zot.3	-	5	1470	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	Homo sapiens EH-domain containing 4 (EHD4), mRNA.	469	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592												
CYP19A1	1588	broad.mit.edu	37	15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:51504611T>C	uc001zyz.4	-	9	1420	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	CYP19A1_uc001zza.4_Missense_Mutation_p.K390R|CYP19A1_uc001zzb.2_Missense_Mutation_p.K390R	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	390					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GTTTGTCCCCTTTTTCACTGG	0.413												
CYP1A2	1544	broad.mit.edu	37	15	75045612	75045612	+	Splice_Site	SNP	G	G	A	rs56107638	byFrequency	TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:75045612G>A	uc002ayr.1	+	6	1317	c.1253_splice	c.e6+1	p.P418_splice		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	418					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	ACCATGACCCGTGAGTACATA	0.493												
SV2B	9899	broad.mit.edu	37	15	91801746	91801746	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:91801746C>A	uc002bqv.3	+	5	1771	c.880C>A	c.(880-882)Ctg>Atg	p.L294M	SV2B_uc002bqt.3_Missense_Mutation_p.L294M|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.L143M	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	294					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CATGGTGGCCCTGAAGTTCAT	0.567												
SV2B	9899	broad.mit.edu	37	15	91801750	91801750	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:91801750A>G	uc002bqv.3	+	5	1775	c.884A>G	c.(883-885)aAg>aGg	p.K295R	SV2B_uc002bqt.3_Missense_Mutation_p.K295R|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.K144R	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	295					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTGGCCCTGAAGTTCATGCCA	0.567												
RNF40	9810	broad.mit.edu	37	16	30783282	30783282	+	Silent	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:30783282C>A	uc002dzq.3	+	17	3535	c.2715C>A	c.(2713-2715)ctC>ctA	p.L905L	RNF40_uc010caa.3_Silent_p.L905L|RNF40_uc010cab.3_Silent_p.L805L|RNF40_uc010vfa.2_Silent_p.L237L|RNF40_uc010vfb.2_Silent_p.L597L|RNF40_uc002dzr.3_Silent_p.L905L|RNF40_uc010vfc.1_Silent_p.L237L	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	905					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCTTCAACCTCAAGAGGGCTC	0.647												
MMP15	4324	broad.mit.edu	37	16	58079116	58079116	+	Silent	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:58079116C>T	uc002ena.3	+	9	2749	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	592					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						GCGCAGAGGGCGACGTGGGGG	0.736												
ATP2C2	9914	broad.mit.edu	37	16	84449185	84449185	+	Silent	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:84449185C>A	uc010chj.3	+	6	701	c.612C>A	c.(610-612)atC>atA	p.I204I	ATP2C2_uc002fhx.3_Silent_p.I204I|ATP2C2_uc002fhy.3_Silent_p.I221I|ATP2C2_uc002fhz.3_Silent_p.I53I	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	204					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGCAGACATCCGACTCACTG	0.507												
TRPV2	51393	broad.mit.edu	37	17	16323552	16323552	+	Silent	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:16323552G>A	uc002gpy.3	+	2	723	c.324G>A	c.(322-324)tcG>tcA	p.S108S	TRPV2_uc002gpz.3_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	108	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	p.S108S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCACCGACTCGGAATACACAG	0.582												
MAP2K3	5606	broad.mit.edu	37	17	21201792	21201792	+	Splice_Site	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:21201792G>A	uc002gys.3	+	2	381	c.116_splice	c.e2+1	p.T39_splice	MAP2K3_uc002gyt.3_Splice_Site_p.T10_splice|MAP2K3_uc021tsq.1_Splice_Site_p.T10_splice|MAP2K3_uc021tsr.1_Splice_Site_p.T10_splice	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	39					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAACCCCACGTGAGTCTGCC	0.577												
TMEM132E	124842	broad.mit.edu	37	17	32953325	32953325	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:32953325C>A	uc002hif.3	+	1	575	c.247C>A	c.(247-249)Cag>Aag	p.Q83K		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	83						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)		CGTGGTGTTCCAGACCAAGGA	0.697												
MAPT	4137	broad.mit.edu	37	17	44067273	44067273	+	Silent	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:44067273G>A	uc002ijr.4	+	7	1534	c.1212G>A	c.(1210-1212)ttG>ttA	p.L404L	MAPT_uc010dau.3_Silent_p.L404L|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	404					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTAAAACCTTGAAAAATAGGC	0.463												
KIF2B	84643	broad.mit.edu	37	17	51901778	51901778	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:51901778C>T	uc002iua.2	+	0	1540	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	462	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	p.S461T(1)		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						CAAGGCCAGCCGGAAAAGGCA	0.488												
CLTC	1213	broad.mit.edu	37	17	57738898	57738898	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:57738898T>C	uc002ixr.1	+	7	1717	c.1274T>C	c.(1273-1275)cTt>cCt	p.L425P	CLTC_uc002ixp.3_Missense_Mutation_p.L421P|CLTC_uc002ixq.1_Missense_Mutation_p.L421P	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	421	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTGGTATCCTTTTGGACCAG	0.458			T	"""ALK, TFE3"""	"""ALCL, renal """							
AANAT	15	broad.mit.edu	37	17	74465804	74465804	+	Missense_Mutation	SNP	G	G	A	rs72466447		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:74465804G>A	uc021udg.1	+	6	1518	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	AANAT_uc002jro.3_Missense_Mutation_p.V126M|AANAT_uc010wte.2_Non-coding_Transcript	NM_001166579	NP_001079	Q16613	SNAT_HUMAN	Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.	126	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						TGTGCTGGCCGTGCACCGCGC	0.692												
RAC3	5881	broad.mit.edu	37	17	79991354	79991354	+	Silent	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:79991354C>T	uc002kdf.3	+	4	433	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_005052	NP_005043	P60763	RAC3_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) (RAC3), mRNA.	109					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCCACACGCCCATCCTCCTGG	0.672												
ADNP2	22850	broad.mit.edu	37	18	77893797	77893797	+	Nonsense_Mutation	SNP	C	C	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr18:77893797C>G	uc002lnw.3	+	3	956	c.501C>G	c.(499-501)taC>taG	p.Y167*		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	167					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACACTTTGTACTACAGCATGA	0.373												
TJP3	27134	broad.mit.edu	37	19	3731941	3731941	+	Missense_Mutation	SNP	G	G	A	rs146857520		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:3731941G>A	uc010xhv.2	+	4	679	c.679G>A	c.(679-681)Gtc>Atc	p.V227I	TJP3_uc010xhs.2_Missense_Mutation_p.V208I|TJP3_uc010xht.2_Missense_Mutation_p.V172I|TJP3_uc010xhu.2_Missense_Mutation_p.V217I|TJP3_uc010xhw.2_Missense_Mutation_p.V227I	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	208	PDZ 2.					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)		AGAGTTTGGCGTCAAGCTGGG	0.592												
ZNF700	90592	broad.mit.edu	37	19	12059987	12059988	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:12059987_12059988delCT	uc010xme.2	+	4	1393_1394	c.1202_1203delCT	c.(1201-1203)actfs	p.T401fs	ZNF700_uc002msu.3_Frame_Shift_Del_p.T383fs|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CATGAAAAAACTCACACTGGAG	0.371												
BABAM1	29086	broad.mit.edu	37	19	17384818	17384818	+	Silent	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:17384818C>T	uc002nfu.3	+	3	568	c.450C>T	c.(448-450)aaC>aaT	p.N150N	BABAM1_uc010xpl.1_Intron|BABAM1_uc002nfv.3_Silent_p.N150N|BABAM1_uc010ean.2_Non-coding_Transcript|BABAM1_uc002nfw.3_Silent_p.N150N	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN	Homo sapiens BRISC and BRCA1 A complex member 1 (BABAM1), transcript variant 2, mRNA.	150	VWFA-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						TGGTGGTGAACGATGACACGG	0.607												
CILP2	148113	broad.mit.edu	37	19	19656132	19656132	+	Silent	SNP	C	C	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:19656132C>G	uc002nmw.4	+	7	2881	c.2796C>G	c.(2794-2796)ctC>ctG	p.L932L	CILP2_uc002nmv.4_Silent_p.L926L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	926						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTGGCGATCTCCTGGCCTGGT	0.647												
CD22	933	broad.mit.edu	37	19	35837131	35837131	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:35837131G>A	uc010edt.3	+	12	2489	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	CD22_uc010edu.3_Missense_Mutation_p.R714H|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.R625H|CD22_uc010xst.2_Missense_Mutation_p.R630H|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	802					cell adhesion		protein binding|sugar binding	p.R802C(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTGCACAAGCGCCAAGTGGTA	0.597												
ADCK4	79934	broad.mit.edu	37	19	41209757	41209757	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:41209757C>G	uc002oor.2	-	7	882	c.580G>C	c.(580-582)Gtt>Ctt	p.V194L	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.2_Missense_Mutation_p.V153L	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	194	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			tcttcaagaactctcTGCGGG	0.592												
LILRB3	11026	broad.mit.edu	37	19	54800078	54800078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:54800078G>A	uc002qfd.3	-	6	1380	c.1288C>T	c.(1288-1290)Caa>Taa	p.Q430*	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Nonsense_Mutation_p.Q366*	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	429					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTTGTTTTGTGGTGGGCTG	0.507												
SPAST	6683	broad.mit.edu	37	2	32366971	32366971	+	Splice_Site	SNP	A	A	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:32366971A>T	uc002roc.3	+	13	1715	c.1494_splice	c.e13-2	p.R498_splice	SPAST_uc002rod.3_Splice_Site_p.R466_splice	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	Homo sapiens spastin (SPAST), transcript variant 1, mRNA.	498	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTTTTTTTTTAGGCGTTTCAT	0.303												
POTEF	728378	broad.mit.edu	37	2	130878084	130878084	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:130878084A>C	uc010fmh.2	-	2	405	c.5T>G	c.(4-6)gTg>gGg	p.V2G		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	2						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AACCTCAACCACCATCTGCTT	0.532												
PRPF40A	55660	broad.mit.edu	37	2	153514467	153514467	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:153514467T>C	uc002tyh.4	-	24	2658	c.2636A>G	c.(2635-2637)gAc>gGc	p.D879G	PRPF40A_uc002tyg.4_Missense_Mutation_p.D335G|PRPF40A_uc010zcd.1_Missense_Mutation_p.D830G	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	906					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCTAGTTCTGTCTTTTTCACT	0.348												
CASP10	843	broad.mit.edu	37	2	202074219	202074219	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:202074219G>A	uc002uxj.1	+	8	1767	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Missense_Mutation_p.R383Q|CASP10_uc002uxk.1_Missense_Mutation_p.R407Q|CASP10_uc002uxl.2_Missense_Mutation_p.R450Q|CASP10_uc002uxm.2_Missense_Mutation_p.R407Q	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	450					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTATCCTTTCGGCATGTGGAG	0.488												
TPX2	22974	broad.mit.edu	37	20	30347914	30347914	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:30347914T>C	uc002wwp.1	+	3	859	c.161T>C	c.(160-162)cTt>cCt	p.L54P	TPX2_uc010gdv.1_Missense_Mutation_p.L54P	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	54					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACTGGAGGGCTTTTTCAGGGC	0.413												
NFATC2	4773	broad.mit.edu	37	20	50139989	50139989	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:50139989G>A	uc002xwd.3	-	1	1011	c.791C>T	c.(790-792)cCg>cTg	p.P264L	NFATC2_uc002xwc.3_Missense_Mutation_p.P264L|NFATC2_uc010zyv.2_Missense_Mutation_p.P45L|NFATC2_uc010zyw.2_Missense_Mutation_p.P45L|NFATC2_uc002xwe.3_Missense_Mutation_p.P244L|NFATC2_uc010zyx.2_Missense_Mutation_p.P244L|NFATC2_uc010zyy.2_Missense_Mutation_p.P45L|NFATC2_uc010zyz.2_Missense_Mutation_p.P45L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	264	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCTCCGGGCGGCAGGGCAAC	0.751												
RPS21	6227	broad.mit.edu	37	20	60963374	60963374	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:60963374G>C	uc002yct.3	+	3					RPS21_uc002ycr.3_Missense_Mutation_p.D66H|RPS21_uc002ycs.3_Missense_Mutation_p.D66H			P63220	RS21_HUMAN	Homo sapiens ribosomal protein S21 (RPS21), mRNA.						endocrine pancreas development|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 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGTGAGTCAGATGATTCCAT	0.507												
TRIM71	131405	broad.mit.edu	37	3	32859711	32859711	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:32859711G>A	uc003cff.3	+	0	202	c.139G>A	c.(139-141)Ggg>Agg	p.G47R		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	47					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						gggcggcggcgggggccctgg	0.781												
C3orf67	200844	broad.mit.edu	37	3	58870322	58870322	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:58870322G>A	uc003dkt.1	-	6	698	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Missense_Mutation_p.R5C	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	97										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TCAGTTTGGCGAAGTTTAGTC	0.408												
ROBO2	6092	broad.mit.edu	37	3	77629222	77629222	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:77629222C>A	uc011bgk.2	+	16	3108	c.2465C>A	c.(2464-2466)aCc>aAc	p.T822N	ROBO2_uc021xat.1_Missense_Mutation_p.T834N|ROBO2_uc003dpy.4_Missense_Mutation_p.T818N|ROBO2_uc003dpz.3_Missense_Mutation_p.T822N|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	818	Fibronectin type-III 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCAGCTAGTACCAGTGCAGGG	0.453												
OR5K4	403278	broad.mit.edu	37	3	98073062	98073062	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:98073062G>A	uc011bgv.2	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GCCTATGACCGCTATGTGGCC	0.473												
CCDC80	151887	broad.mit.edu	37	3	112356885	112356885	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:112356885C>T	uc003dzf.3	-	1	2086	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	CCDC80_uc011bhv.2_Missense_Mutation_p.R623Q|CCDC80_uc003dzg.3_Missense_Mutation_p.R623Q|CCDC80_uc003dzh.1_Missense_Mutation_p.R623Q	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	623										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AAGGAGTCTTCGTTTGCCTTC	0.463												
PLXND1	23129	broad.mit.edu	37	3	129297231	129297231	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:129297231C>T	uc003emx.2	-	8	2387	c.2287G>A	c.(2287-2289)Gtg>Atg	p.V763M		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	763					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCCGTAGGCACGGGTGCCAGG	0.632												
VPS8	23355	broad.mit.edu	37	3	184552450	184552450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:184552450delC	uc021xik.1	+	3	455	c.367delC	c.(367-369)cctfs	p.P123fs	VPS8_uc003fpb.1_Frame_Shift_Del_p.P123fs|VPS8_uc010hyd.1_Frame_Shift_Del_p.P123fs|VPS8_uc003fpc.1_Frame_Shift_Del_p.P123fs	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	123							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAAGAAATTACCTGATTCTTT	0.343												
UGT2B10	7365	broad.mit.edu	37	4	69874575	69874575	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr4:69874575G>A	uc011cao.1	-	7	1301	c.1175_splice	c.e7+1	p.S392_splice	UGT2B10_uc011can.1_Splice_Site_p.S308_splice			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	436					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTCTACTCACGAAGGATCATT	0.368												
NDST4	64579	broad.mit.edu	37	4	115891587	115891587	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr4:115891587A>G	uc003ibu.3	-	4	1900	c.1221_splice	c.e4+1	p.L407_splice	NDST4_uc010imw.3_Splice_Site	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	407	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTGCTCACCAGTGCAAATTC	0.393												
HEATR7B2	133558	broad.mit.edu	37	5	41058293	41058293	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr5:41058293C>T	uc003jmj.4	-	6	1118	c.628G>A	c.(628-630)Gtt>Att	p.V210I	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.V210I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	210							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGGGCCTTAACGATGCTCAAA	0.512												
PIK3R1	5295	broad.mit.edu	37	5	67589634	67589635	+	In_Frame_Ins	INS	-	-	ATATGAAGA			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr5:67589634_67589635insATATGAAGA	uc003jva.3	+	10	1977_1978	c.1397_1398insATATGAAGA	c.(1396-1398)tta>ttATATGAAGAa	p.469_470insYEE	PIK3R1_uc003jvc.3_In_Frame_Ins_p.169_170insYEE|PIK3R1_uc003jvd.3_In_Frame_Ins_p.199_200insYEE|PIK3R1_uc003jve.3_In_Frame_Ins_p.148_149insYEE|PIK3R1_uc021xzn.1_In_Frame_Ins_p.106_107insYEE|PIK3R1_uc011crb.2_In_Frame_Ins_p.139_140insYEE	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	469					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D434_Q475del(2)|p.Y463_L466del(1)|p.Y467_E468insGEYDRLYE(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TATGATAGATTATATGAAGAAT	0.287			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
PKHD1	5314	broad.mit.edu	37	6	51491840	51491840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51491840G>A	uc003pah.1	-	65	12016	c.11740C>T	c.(11740-11742)Cga>Tga	p.R3914*		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3914					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	p.R3913R(1)		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)					TGTGATTCTCGGCGTTTGGAT	0.438												
PKHD1	5314	broad.mit.edu	37	6	51918008	51918008	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51918008C>T	uc003pah.1	-	20	2282	c.2006G>A	c.(2005-2007)cGt>cAt	p.R669H	PKHD1_uc003pai.3_Missense_Mutation_p.R669H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	669					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)					CCCGAAGCAACGCACACAAGT	0.582												
PKHD1	5314	broad.mit.edu	37	6	51941107	51941107	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51941107C>T	uc003pah.1	-	5	691	c.415G>A	c.(415-417)Gtt>Att	p.V139I	PKHD1_uc003pai.3_Missense_Mutation_p.V139I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	139	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	p.V139I(2)		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)					ACTTGGTGAACGATGGGTGTC	0.393												
VGLL2	245806	broad.mit.edu	37	6	117589651	117589651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:117589651C>T	uc003pxn.3	+	1	594	c.388C>T	c.(388-390)Cga>Tga	p.R130*	VGLL2_uc003pxo.3_Nonsense_Mutation_p.R130*	NM_182645	NP_872586	Q8N8G2	VGLL2_HUMAN	Homo sapiens vestigial like 2 (Drosophila) (VGLL2), transcript variant 1, mRNA.	130					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TGGGCCCTGGCGAGGTGAGTA	0.567												
IGF2R	3482	broad.mit.edu	37	6	160506085	160506085	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:160506085G>A	uc003qta.3	+	40	6275	c.6127G>A	c.(6127-6129)Gcc>Acc	p.A2043T		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	2043					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTCTGAAAGGGCCAGCATTTG	0.517												
ZPBP	11055	broad.mit.edu	37	7	50097612	50097612	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:50097612G>A	uc003tou.3	-	3	530	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ZPBP_uc010kyw.3_Missense_Mutation_p.R153C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	154					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AGTTGAAGACGTTTAACAATT	0.294												
NRCAM	4897	broad.mit.edu	37	7	107880546	107880546	+	Translation_Start_Site	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:107880546C>A	uc022aka.1	-	0					NRCAM_uc011kmk.2_5'UTR|NRCAM_uc003vfd.3_5'UTR|NRCAM_uc003vfe.3_5'UTR|NRCAM_uc003vfc.3_5'UTR	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.						angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACTGAATTTCCTTTTCTTCTT	0.383												
GRM8	2918	broad.mit.edu	37	7	126173900	126173900	+	Silent	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:126173900C>T	uc003vlr.2	-	7	1847	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.P512P|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	512					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.H511P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGACAGACGCCGGGTGAGTAT	0.488										HNSCC(24;0.065)		
CNTNAP2	26047	broad.mit.edu	37	7	147183114	147183114	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:147183114T>G	uc003weu.2	+	10	2274	c.1758T>G	c.(1756-1758)agT>agG	p.S586R	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	586	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.S586R(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGGATACAGTGGGGCCACCT	0.468										HNSCC(39;0.1)		
SPTAN1	6709	broad.mit.edu	37	9	131381157	131381157	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr9:131381157C>T	uc004bvl.4	+	42	5735	c.5593C>T	c.(5593-5595)Cgg>Tgg	p.R1865W	SPTAN1_uc004bvm.4_Missense_Mutation_p.R1870W|SPTAN1_uc004bvn.4_Missense_Mutation_p.R1845W	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1865					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TAGGGGTCAGCGGCTGGAAGA	0.438												
CACNA1B	774	broad.mit.edu	37	9	140777224	140777224	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr9:140777224T>C	uc004cog.3	+	2	564	c.419T>C	c.(418-420)aTc>aCc	p.I140T	AK128414_uc004cof.1_Intron|CACNA1B_uc022bqn.1_Missense_Mutation_p.I140T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	140					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTCATCGGGATCTTTTGCTTC	0.572