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
CDH19	28513	broad.mit.edu	37	18	64178908	64178908	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr18:64178908G>A	ENST00000262150.2	-	10	1765	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	491	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCACTGCACTGATAGTCTGAA	0.318000													20	32					0	0	0.007413	0	0
RPA1	6117	broad.mit.edu	37	17	1783840	1783840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:1783840G>A	ENST00000254719.5	+	12	1206	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	366					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TTTACAGGCTGATAAATTTGA	0.428000								Nucleotide excision repair (NER)					16	33					0	0	0.004990	0	0
SENP6	26054	broad.mit.edu	37	6	76344433	76344433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:76344433C>T	ENST00000370014.3	+	5	983	c.364C>T	c.(364-366)Caa>Taa	p.Q122*	SENP6_ENST00000327284.8_Nonsense_Mutation_p.Q122*|SENP6_ENST00000447266.2_Nonsense_Mutation_p.Q122*|SENP6_ENST00000370010.2_Nonsense_Mutation_p.Q122*	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	122					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TGAAAATACGCAAAATACGTC	0.318000													8	18					0	0	0.003080	0	0
P2RX6	9127	broad.mit.edu	37	22	21377467	21377467	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:21377467C>T	ENST00000413302.2	+	6	766	c.618C>T	c.(616-618)ttC>ttT	p.F206F	P2RX6_ENST00000401443.1_Silent_p.F180F|P2RX6_ENST00000336296.2_Silent_p.F196F|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Silent_p.F153F			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	206					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										CAGTCACCTTCAGCAAGTTCA	0.572000													11	283					0	0	0.008291	0	0
DTNA	1837	broad.mit.edu	37	18	32428280	32428280	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr18:32428280G>A	ENST00000283365.9	+	13	1466	c.1115G>A	c.(1114-1116)cGg>cAg	p.R372Q	DTNA_ENST00000598334.1_Missense_Mutation_p.R369Q|DTNA_ENST00000595022.1_Missense_Mutation_p.R369Q|DTNA_ENST00000598142.1_Missense_Mutation_p.R372Q|DTNA_ENST00000556414.3_Missense_Mutation_p.R81Q|DTNA_ENST00000597599.1_Missense_Mutation_p.R369Q|DTNA_ENST00000269190.7_Missense_Mutation_p.R430Q|DTNA_ENST00000598774.1_Missense_Mutation_p.R372Q|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Missense_Mutation_p.R51Q|DTNA_ENST00000591182.1_Missense_Mutation_p.R77Q|DTNA_ENST00000348997.5_Missense_Mutation_p.R426Q|DTNA_ENST00000597674.1_Missense_Mutation_p.R51Q|DTNA_ENST00000444659.1_Missense_Mutation_p.R429Q|DTNA_ENST00000599844.1_Missense_Mutation_p.R51Q|DTNA_ENST00000399113.3_Missense_Mutation_p.R429Q|DTNA_ENST00000269191.6_Missense_Mutation_p.R429Q|DTNA_ENST00000399121.5_Missense_Mutation_p.R369Q|DTNA_ENST00000269192.7_Missense_Mutation_p.R138Q|DTNA_ENST00000399097.3_Missense_Mutation_p.R77Q	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	401					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGTTCAAACCGGCTTGATGAA	0.448000													20	24					0	0	0.002780	0	0
DPP10	57628	broad.mit.edu	37	2	116447315	116447315	+	Splice_Site	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:116447315G>A	ENST00000410059.1	+	6	974	c.494_splice	c.e6+1	p.R165_splice	DPP10_ENST00000409163.1_Splice_Site_p.R115_splice|DPP10_ENST00000310323.8_Splice_Site_p.R158_splice|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Splice_Site_p.R169_splice	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	165					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATACACACTAGGTAAGTTCTT	0.264000													4	16					0	0	0.000248	0	0
DCAF12	25853	broad.mit.edu	37	9	34098412	34098412	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:34098412G>C	ENST00000361264.4	-	5	1046	c.705C>G	c.(703-705)atC>atG	p.I235M		NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	235						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCTTGTGAGTGATGTGTGCAT	0.483000													7	108					0	0	0.001984	0	0
SSR1	6745	broad.mit.edu	37	6	7301699	7301699	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:7301699G>T	ENST00000244763.4	-	4	473	c.387C>A	c.(385-387)gaC>gaA	p.D129E	SSR1_ENST00000489567.1_Intron|SSR1_ENST00000534851.1_Missense_Mutation_p.D102E|SSR1_ENST00000479365.1_Missense_Mutation_p.D129E|SSR1_ENST00000397511.2_Missense_Mutation_p.D129E|SSR1_ENST00000462112.1_Missense_Mutation_p.D129E|SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000474597.1_Missense_Mutation_p.D129E	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	129					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					AAAACTGGTAGTCCTGAGGAT	0.428000													23	57					3.7963e-18	7.90607e-18	0.003330	1	0
TRBV10-1	28585	broad.mit.edu	37	7	142231586	142231586	+	RNA	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:142231586C>T	ENST00000390364.3	-	0	398																											TCACTGCTGGCGCAGAAATAT	0.537000													32	50					0	0	0.004878	0	0
LAMC3	10319	broad.mit.edu	37	9	133957539	133957539	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:133957539G>C	ENST00000361069.4	+	24	4154	c.4021G>C	c.(4021-4023)Gat>Cat	p.D1341H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1341	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCTGCTGGCTGATCTGGAAGG	0.617000													13	5					0	0	0.001855	0	0
CSMD1	64478	broad.mit.edu	37	8	3267046	3267046	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:3267046G>T	ENST00000520002.1	-	14	2201	c.1646C>A	c.(1645-1647)aCa>aAa	p.T549K	CSMD1_ENST00000602723.1_Missense_Mutation_p.T549K|CSMD1_ENST00000602557.1_Missense_Mutation_p.T549K|CSMD1_ENST00000400186.3_Missense_Mutation_p.T549K|CSMD1_ENST00000542608.1_Missense_Mutation_p.T548K|CSMD1_ENST00000537824.1_Missense_Mutation_p.T548K|CSMD1_ENST00000539096.1_Missense_Mutation_p.T548K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	549	Sushi 3.					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)		AAAGGTGAGTGTATCTCCATG	0.527000													4	5					0.000602214	0.0011684	0.000602	1	0
OR5AR1	219493	broad.mit.edu	37	11	56431302	56431302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:56431302C>G	ENST00000302969.2	+	1	165	c.141C>G	c.(139-141)atC>atG	p.I47M		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GTATGATTATCCTGATTACAA	0.473000													10	183					0	0	0.001368	0	0
NRXN2	9379	broad.mit.edu	37	11	64428240	64428240	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:64428240G>A	ENST00000265459.6	-	10	2631	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	NRXN2_ENST00000409571.1_Missense_Mutation_p.R717W|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377551.1_Missense_Mutation_p.R724W|NRXN2_ENST00000377559.3_Missense_Mutation_p.R693W	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	724	EGF-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCACAGACCCGCCCAAGAAAG	0.592000													17	45					0	0	0.004990	0	0
MKL1	57591	broad.mit.edu	37	22	40825650	40825650	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:40825650G>T	ENST00000396617.3	-	7	851	c.261C>A	c.(259-261)aaC>aaA	p.N87K	MKL1_ENST00000402042.1_Missense_Mutation_p.N87K|MKL1_ENST00000402630.1_Missense_Mutation_p.N87K|MKL1_ENST00000355630.3_Missense_Mutation_p.N87K|MKL1_ENST00000407029.1_Missense_Mutation_p.N87K			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	87	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CAGGAAGGATGTTCTTCTCCA	0.577000			T	RBM15	acute megakaryocytic leukemia								35	14					1.99505e-19	4.1804e-19	0.002445	1	0
TAB2	23118	broad.mit.edu	37	6	149699950	149699950	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:149699950C>T	ENST00000367456.1	+	4	1476	c.899C>T	c.(898-900)tCa>tTa	p.S300L	TAB2_ENST00000538427.1_Missense_Mutation_p.S300L|TAB2_ENST00000286332.5_Missense_Mutation_p.S300L|TAB2_ENST00000392282.1_Missense_Mutation_p.S300L|TAB2_ENST00000536230.1_Missense_Mutation_p.S268L			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	300					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACCATTCATTCATCTGGTAGC	0.433000													9	82					0	0	0.006214	0	0
PSIP1	11168	broad.mit.edu	37	9	15469058	15469058	+	Splice_Site	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:15469058T>C	ENST00000380733.4	-	13	1448		c.e13-2		PSIP1_ENST00000380738.4_Splice_Site			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTTCACATCCTTCATGACAAA	0.353000													11	18					0	0	0.008291	0	0
WRB	7485	broad.mit.edu	37	21	40762689	40762689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr21:40762689G>A	ENST00000333781.5	+	2	309	c.168G>A	c.(166-168)atG>atA	p.M56I	WRB_ENST00000466787.1_3'UTR|WRB_ENST00000398753.1_Missense_Mutation_p.M22I|WRB_ENST00000380708.1_Missense_Mutation_p.M22I|WRB_ENST00000541890.1_Missense_Mutation_p.M56I	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	56						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TCCAGGACATGAAGCAGGAGC	0.542000													4	28					0	0	0.000602	0	0
CSPP1	79848	broad.mit.edu	37	8	68007843	68007843	+	Missense_Mutation	SNP	C	C	T	rs114953032	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:68007843C>T	ENST00000262210.5	+	6	857	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	311						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TAATGAGGATCGTGTTTTTGA	0.373000													6	34					0	0	0.003080	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280474	105280474	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:105280474G>A	ENST00000327674.4	-	1	911	c.576C>T	c.(574-576)ctC>ctT	p.L192L	SERPINA7_ENST00000372563.1_Silent_p.L192L			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	192					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.L192L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGTTTGGCTTGAGGTCTTGAA	0.418000													18	103					0	0	0.006122	0	0
SLC24A4	123041	broad.mit.edu	37	14	92959967	92959967	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:92959967G>A	ENST00000532405.1	+	17	2090	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	SLC24A4_ENST00000393265.2_Missense_Mutation_p.D558N|SLC24A4_ENST00000298877.1_Missense_Mutation_p.D605N|SLC24A4_ENST00000351924.5_Missense_Mutation_p.D586N|SLC24A4_ENST00000531433.1_Missense_Mutation_p.D603N			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	622						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.D605H(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCGGGAAGACGATTAGCGCTG	0.547000													4	20					0	0	0.000602	0	0
NUP62	23636	broad.mit.edu	37	19	50412910	50412910	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:50412910G>C	ENST00000596217.1	-	2	2042	c.155C>G	c.(154-156)aCa>aGa	p.T52R	CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000597029.1_Missense_Mutation_p.T52R|NUP62_ENST00000352066.3_Missense_Mutation_p.T52R|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.T52R|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.T52R|NUP62_ENST00000413454.1_Missense_Mutation_p.T52R			P37198	NUP62_HUMAN	nucleoporin 62kDa	52	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGGGTACTTGTGGCTGGTTG	0.567000													7	134					0	0	0.003080	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338237	28338237	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr21:28338237G>A	ENST00000284987.5	-	1	595	c.474C>T	c.(472-474)gtC>gtT	p.V158V		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	158					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						GCGCGTGCTTGACCGCGAAGA	0.657000													7	26					0	0	0.003080	0	0
DGCR2	9993	broad.mit.edu	37	22	19076905	19076905	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:19076905C>T	ENST00000545799.1	-	2	378	c.178G>A	c.(178-180)Gag>Aag	p.E60K	DGCR2_ENST00000263196.7_Missense_Mutation_p.E60K|DGCR2_ENST00000537045.1_Intron			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	60	LDL-receptor class A.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TCGTCGCTCTCATCCTCGCAA	0.607000													14	123					0	0	0.003163	0	0
NRM	11270	broad.mit.edu	37	6	30658649	30658649	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:30658649G>C	ENST00000259953.4	-	2	454	c.103C>G	c.(103-105)Ctt>Gtt	p.L35V	NRM_ENST00000376420.5_Missense_Mutation_p.L35V|NRM_ENST00000376421.5_Missense_Mutation_p.L35V|NRM_ENST00000470733.1_5'UTR	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	35						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						ATCCCTCCAAGAAGTGGCCGA	0.642000													21	47					0	0	0.001882	0	0
AHCTF1	25909	broad.mit.edu	37	1	247040301	247040301	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:247040301T>C	ENST00000366508.1	-	23	3129	c.2993A>G	c.(2992-2994)aAt>aGt	p.N998S	AHCTF1_ENST00000326225.3_Missense_Mutation_p.N972S|AHCTF1_ENST00000391829.2_Missense_Mutation_p.N963S|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	963					cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGGCACATAATTGGCACGCTG	0.378000													12	79					0	0	0.000978	0	0
IFT80	57560	broad.mit.edu	37	3	160099354	160099354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:160099354G>A	ENST00000326448.7	-	3	628	c.196C>T	c.(196-198)Cca>Tca	p.P66S	RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	66						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)			AAACTTTTTGGAAACCAGTGA	0.358000													9	51					0	0	0.006214	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118394400	118394400	+	RNA	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:118394400A>T	ENST00000537242.1	+	0	892				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_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			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TTCGAGTATTACTCAAGCAGC	0.498000													7	34					0	0	0.003080	0	0
ZNF708	7562	broad.mit.edu	37	19	21492100	21492100	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:21492100T>A	ENST00000356929.3	-	3	371	c.174A>T	c.(172-174)caA>caT	p.Q58H		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GCTCTTTTCCTTGCTCCAGAC	0.428000													24	72					0	0	0.008361	0	0
CHI3L2	1117	broad.mit.edu	37	1	111777615	111777615	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:111777615G>C	ENST00000445067.2	+	7	1187	c.416G>C	c.(415-417)gGa>gCa	p.G139A	CHI3L2_ENST00000466741.1_Missense_Mutation_p.G60A|CHI3L2_ENST00000369744.2_Missense_Mutation_p.G129A|CHI3L2_ENST00000369748.4_Missense_Mutation_p.G139A|CHI3L2_ENST00000524472.1_Missense_Mutation_p.G60A			Q15782	CH3L2_HUMAN	chitinase 3-like 2	139					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		AACTTTGATGGACTGGATGTA	0.398000													4	43					0	0	0.000602	0	0
SHD	56961	broad.mit.edu	37	19	4282869	4282869	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:4282869G>A	ENST00000543264.2	+	2	1763	c.300G>A	c.(298-300)ctG>ctA	p.L100L	SHD_ENST00000599689.1_Silent_p.L100L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	100										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGCAGCTGGAAGCCGACA	0.572000													32	54					0	0	0.002445	0	0
ZNF493	284443	broad.mit.edu	37	19	21606747	21606747	+	Missense_Mutation	SNP	G	G	C	rs143136118		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:21606747G>C	ENST00000392288.2	+	4	1395	c.1286G>C	c.(1285-1287)gGa>gCa	p.G429A	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.G301A	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATTCATACTGGAGAGAAACCC	0.338000													3	30					0	0	0.004672	0	0
FOXRED2	80020	broad.mit.edu	37	22	36886209	36886209	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:36886209T>C	ENST00000397224.4	-	9	1994	c.1901A>G	c.(1900-1902)cAc>cGc	p.H634R	FOXRED2_ENST00000397223.4_Missense_Mutation_p.H634R|FOXRED2_ENST00000216187.6_Missense_Mutation_p.H634R|FOXRED2_ENST00000366463.3_Missense_Mutation_p.H186R	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	634					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCCACTCTGTGCTGCCAAAG	0.637000													12	100					0	0	0.001855	0	0
IL6R	3570	broad.mit.edu	37	1	154437818	154437818	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:154437818T>G	ENST00000368485.3	+	10	1806	c.1369T>G	c.(1369-1371)Tat>Gat	p.Y457D	IL6R_ENST00000344086.4_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	457					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)			ACGGAGCCCTTATGACATCAG	0.577000													7	128					0	0	0.004482	0	0
KCNH5	27133	broad.mit.edu	37	14	63175134	63175134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:63175134C>T	ENST00000322893.7	-	11	2327	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	687					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGCGCTCCTCCTCCTCTTTC	0.493000													16	68					0	0	0.004990	0	0
CHD3	1107	broad.mit.edu	37	17	7794330	7794330	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7794330G>A	ENST00000380358.4	+	4	635	c.634G>A	c.(634-636)Gag>Aag	p.E212K	CHD3_ENST00000358181.4_Missense_Mutation_p.E153K|CHD3_ENST00000330494.7_Missense_Mutation_p.E153K	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	153	Poly-Ala.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGTGTTCTCTGAGGAGGATTA	0.512000													28	70					0	0	0.002096	0	0
CTNNA2	1496	broad.mit.edu	37	2	79878701	79878701	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:79878701C>T	ENST00000466387.1	+	6	743	c.19C>T	c.(19-21)Cct>Tct	p.P7S	CTNNA2_ENST00000540488.1_Missense_Mutation_p.P7S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P7S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P7S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P7S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P41S|CTNNA2_ENST00000409266.1_Missense_Mutation_p.P7S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	7					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGCAACTTCACCTATCATTCT	0.403000													24	57					0	0	0.004656	0	0
RBM5	10181	broad.mit.edu	37	3	50151488	50151488	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:50151488G>C	ENST00000347869.3	+	19	1898	c.1723G>C	c.(1723-1725)Gaa>Caa	p.E575Q		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	575	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)		AGAAAGGAGAGAATCTGCTGC	0.423000													22	24					0	0	0.001523	0	0
STAT1	6772	broad.mit.edu	37	2	191863005	191863005	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:191863005C>T	ENST00000361099.3	-	8	958	c.571G>A	c.(571-573)Gat>Aat	p.D191N	STAT1_ENST00000409465.1_Missense_Mutation_p.D191N|STAT1_ENST00000540176.1_Intron|STAT1_ENST00000392322.3_Missense_Mutation_p.D191N|STAT1_ENST00000392323.2_Missense_Mutation_p.D193N	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	191					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGTTTCTGATCACTCTTTGCC	0.338000													7	64					0	0	0.004482	0	0
MYO18B	84700	broad.mit.edu	37	22	26343755	26343755	+	Silent	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:26343755G>C	ENST00000335473.7	+	36	5959	c.5709G>C	c.(5707-5709)ctG>ctC	p.L1903L	MYO18B_ENST00000536101.1_Silent_p.L1903L|MYO18B_ENST00000407587.2_Silent_p.L1904L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1903	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGATGACCTGAATGAGCTGA	0.557000													9	18					0	0	0.008291	0	0
CHRDL1	91851	broad.mit.edu	37	X	109922601	109922601	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:109922601C>T	ENST00000218054.4	-	11	1399	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	CHRDL1_ENST00000434224.1_Silent_p.E322E|CHRDL1_ENST00000482160.1_Silent_p.E323E|CHRDL1_ENST00000372042.1_Silent_p.E403E|CHRDL1_ENST00000394797.4_Silent_p.E401E|CHRDL1_ENST00000372045.1_Silent_p.E395E|CHRDL1_ENST00000444321.2_Silent_p.E402E	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	395					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AGTGAGGAAGCTCCTCAAACA	0.453000													45	15					0	0	0.003610	0	0
FN1	2335	broad.mit.edu	37	2	216286886	216286886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:216286886G>C	ENST00000354785.4	-	10	1843	c.1474C>G	c.(1474-1476)Cac>Gac	p.H492D	FN1_ENST00000323926.6_Missense_Mutation_p.H492D|FN1_ENST00000432072.2_Missense_Mutation_p.H492D|FN1_ENST00000356005.4_Missense_Mutation_p.H492D|FN1_ENST00000345488.5_Missense_Mutation_p.H492D|FN1_ENST00000336916.4_Missense_Mutation_p.H492D|FN1_ENST00000346544.3_Missense_Mutation_p.H492D|FN1_ENST00000359671.1_Missense_Mutation_p.H492D|FN1_ENST00000357867.4_Missense_Mutation_p.H492D|FN1_ENST00000421182.1_Missense_Mutation_p.H492D|FN1_ENST00000446046.1_Missense_Mutation_p.H492D|FN1_ENST00000443816.1_Missense_Mutation_p.H492D|FN1_ENST00000426059.1_Missense_Mutation_p.H492D|FN1_ENST00000357009.2_Missense_Mutation_p.H492D			P02751	FINC_HUMAN	fibronectin 1	492	Collagen-binding.|Fibronectin type-I 7.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCATCATGTGACCCATGTCA	0.478000													21	100					0	0	0.001523	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216405	20216405	+	Silent	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:20216405C>A	ENST00000331723.1	+	1	819	c.819C>A	c.(817-819)tcC>tcA	p.S273S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATATTCTCCTTGTTTTACA	0.433000													20	157					7.41877e-09	1.48594e-08	0.001882	1	0
FMN2	56776	broad.mit.edu	37	1	240371390	240371390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:240371390G>A	ENST00000319653.9	+	5	3508	c.3278G>A	c.(3277-3279)gGa>gAa	p.G1093E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1093	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTACCCGGAGCGGGCATA	0.726000													3	9					0	0	0.004672	0	0
DHX8	1659	broad.mit.edu	37	17	41585799	41585799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:41585799C>T	ENST00000262415.3	+	16	2485	c.2413C>T	c.(2413-2415)Cca>Tca	p.P805S	DHX8_ENST00000540306.1_Missense_Mutation_p.P805S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	805	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACCTGATGTTCCAGAGTTAAT	0.488000													13	61					0	0	0.001855	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713495	46713495	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:46713495C>G	ENST00000318962.4	-	24	2646	c.2563G>C	c.(2563-2565)Gag>Cag	p.E855Q	ALS2CL_ENST00000383742.3_Missense_Mutation_p.E202Q|ALS2CL_ENST00000415953.1_Missense_Mutation_p.E855Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	855	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCCAGCACCTCCAGCTTCTCC	0.622000													3	50					0	0	0.004672	0	0
TM9SF4	9777	broad.mit.edu	37	20	30729430	30729430	+	Silent	SNP	C	C	T	rs117023270	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:30729430C>T	ENST00000217315.5	+	4	649	c.309C>T	c.(307-309)ctC>ctT	p.L103L	TM9SF4_ENST00000398022.2_Silent_p.L120L			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	120						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGAGCCGACTCGTGGCCGAGC	0.577000													9	137					0	0	0.004482	0	0
ACSS3	79611	broad.mit.edu	37	12	81503457	81503457	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:81503457T>A	ENST00000548058.1	+	2	1340	c.430T>A	c.(430-432)Ttt>Att	p.F144I	ACSS3_ENST00000261206.3_Missense_Mutation_p.F143I|RP11-543H12.1_ENST00000547123.1_RNA			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	144						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TAAAGCAACCTTTACCTATAA	0.299000													7	25					0	0	0.003080	0	0
C16orf46	123775	broad.mit.edu	37	16	81087678	81087678	+	Nonstop_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:81087678A>G	ENST00000378611.4	-	4	1280	c.1165T>C	c.(1165-1167)Tag>Cag	p.*389Q	RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	0										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCCTCTCCTACTTTATCTTC	0.408000													16	38					0	0	0.004990	0	0
REG1B	5968	broad.mit.edu	37	2	79314023	79314023	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:79314023C>G	ENST00000305089.3	-	3	178	c.98G>C	c.(97-99)cGa>cCa	p.R33P		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	33					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GCAGCTGATTCGGGGATTAGG	0.498000													68	53					0	0	0.003610	0	0
DNAH2	146754	broad.mit.edu	37	17	7637808	7637808	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7637808C>T	ENST00000572933.1	+	7	2220	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	DNAH2_ENST00000570791.1_Missense_Mutation_p.R254W|DNAH2_ENST00000082259.3_Missense_Mutation_p.R254W|DNAH2_ENST00000389173.2_Missense_Mutation_p.R254W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	254	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACTGGACCCGGCAGATAAA	0.537000													9	38					0	0	0.004482	0	0
CYP3A7	1551	broad.mit.edu	37	7	99306662	99306662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:99306662C>T	ENST00000336374.2	-	11	1251	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	417					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TCCTACCTTTCAGGGAGGAAC	0.512000													18	89					0	0	0.004990	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188034	70188034	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:70188034G>A	ENST00000320256.4	-	1	1363	c.787C>T	c.(787-789)Cta>Tta	p.L263L		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	263	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGCTTGCCTAGGGACACCGCT	0.542000													25	60					0	0	0.003330	0	0
MACF1	23499	broad.mit.edu	37	1	39749116	39749116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:39749116A>G	ENST00000564288.1	+	9	1621	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	MACF1_ENST00000372915.3_Missense_Mutation_p.I287V|MACF1_ENST00000539005.1_Missense_Mutation_p.I287V|MACF1_ENST00000545844.1_Missense_Mutation_p.I287V|MACF1_ENST00000361689.2_Missense_Mutation_p.I287V|MACF1_ENST00000317713.7_Missense_Mutation_p.I287V|MACF1_ENST00000567887.1_Missense_Mutation_p.I319V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	287	Actin-binding.|CH 2.				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)			AAAGTCTGTAATCACTTATGT	0.418000													13	37					0	0	0.002450	0	0
SLC4A8	9498	broad.mit.edu	37	12	51851325	51851325	+	Splice_Site	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:51851325T>C	ENST00000453097.2	+	6	980		c.e6+2		SLC4A8_ENST00000535225.2_Splice_Site|SLC4A8_ENST00000514353.3_Splice_Site|SLC4A8_ENST00000358657.3_Splice_Site|SLC4A8_ENST00000394856.1_Splice_Site	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8						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)		ATAAACATGGTAAGATTATTA	0.388000													17	33					0	0	0.004990	0	0
ZIC4	84107	broad.mit.edu	37	3	147114239	147114239	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:147114239G>T	ENST00000383075.3	-	3	600	c.88C>A	c.(88-90)Cat>Aat	p.H30N	ZIC4_ENST00000425731.3_Missense_Mutation_p.H68N|ZIC4_ENST00000473123.1_Missense_Mutation_p.H30N|ZIC4_ENST00000484399.1_Missense_Mutation_p.H30N|ZIC4_ENST00000525172.2_Missense_Mutation_p.H80N|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	30						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGGGGGCCATGGTGTCCAGAG	0.692000													10	43					3.07112e-06	6.07974e-06	0.000978	1	0
FAM181A	90050	broad.mit.edu	37	14	94395169	94395169	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:94395169G>A	ENST00000267594.5	+	3	1031	c.724G>A	c.(724-726)Gag>Aag	p.E242K	FAM181A_ENST00000556222.1_Missense_Mutation_p.E180K|FAM181A_ENST00000557719.1_Missense_Mutation_p.E180K|FAM181A_ENST00000557000.2_Missense_Mutation_p.E180K	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	242										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CCTGGGACCTGAGACTACCCT	0.622000													4	33					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179655440	179655440	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179655440C>T	ENST00000589042.1	-	11	2019	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E599K|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E599K|TTN_ENST00000591111.1_Missense_Mutation_p.E599K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	599							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)			ATCACCTTTTCATAACTTAGG	0.408000													6	82					0	0	0.001168	0	0
RHPN1	114822	broad.mit.edu	37	8	144464817	144464817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:144464817C>T	ENST00000289013.6	+	15	2110	c.2009C>T	c.(2008-2010)cCg>cTg	p.P670L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	695					signal transduction	intracellular		p.P670Q(2)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CCAGGGTGGCCGTGAGGGCCA	0.687000													16	14					0	0	0.004007	0	0
CHIC2	26511	broad.mit.edu	37	4	54880271	54880271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:54880271C>T	ENST00000263921.3	-	4	735	c.346G>A	c.(346-348)Gag>Aag	p.E116K	FIP1L1_ENST00000507166.1_Intron|CHIC2_ENST00000512964.1_Intron	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	116						plasma membrane	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AATAACTTCTCAATCGATCTT	0.403000			T	ETV6	AML								10	19					0	0	0.000978	0	0
ERC2	26059	broad.mit.edu	37	3	55984515	55984515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:55984515G>A	ENST00000288221.6	-	13	2596	c.2341C>T	c.(2341-2343)Cag>Tag	p.Q781*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	781						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTAGTAACTGAGCATTTTTC	0.428000													10	35					0	0	0.006214	0	0
ANK3	288	broad.mit.edu	37	10	62149197	62149197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:62149197C>T	ENST00000280772.1	-	1	291	c.100G>A	c.(100-102)Gat>Aat	p.D34N	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	34					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTCCGATCCCGGGACCGT	0.408000													15	60					0	0	0.002450	0	0
TDRD5	163589	broad.mit.edu	37	1	179562647	179562647	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:179562647G>A	ENST00000444136.1	+	3	535	c.285G>A	c.(283-285)agG>agA	p.R95R	TDRD5_ENST00000367614.1_Silent_p.R95R|TDRD5_ENST00000294848.8_Silent_p.R95R	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	95	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAAAACAGAGGAGCAGCCATA	0.438000													15	43					0	0	0.002450	0	0
EEA1	8411	broad.mit.edu	37	12	93213152	93213152	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:93213152G>C	ENST00000322349.8	-	14	1924	c.1660C>G	c.(1660-1662)Cag>Gag	p.Q554E		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	554	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCACCAGCCTGAATTTTTGCA	0.313000													6	30					0	0	0.001984	0	0
PABPC4	8761	broad.mit.edu	37	1	40027815	40027815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:40027815C>T	ENST00000372857.3	-	14	2567	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	PABPC4_ENST00000372856.3_Missense_Mutation_p.G579E|PABPC4_ENST00000372858.3_Missense_Mutation_p.G608E|PABPC4_ENST00000372862.3_Missense_Mutation_p.G563E	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	592	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCAGCATTCCCGTGATCTT	0.498000													7	28					0	0	0.001984	0	0
LEPR	3953	broad.mit.edu	37	1	66101929	66101929	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:66101929C>A	ENST00000349533.6	+	20	2914	c.2729C>A	c.(2728-2730)cCt>cAt	p.P910H	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	910					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ACATGTGGTCCTCTTCTTTTG	0.348000													39	96					7.63091e-17	1.58434e-16	0.007835	1	0
PLP1	5354	broad.mit.edu	37	X	103041526	103041526	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:103041526C>T	ENST00000418604.1	+	4	604	c.324C>T	c.(322-324)atC>atT	p.I108I	PLP1_ENST00000303958.2_Silent_p.I108I|PLP1_ENST00000361621.2_Silent_p.I108I	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	108					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGACCACCATCTGCGGCAAGG	0.582000													12	110					0	0	0.000978	0	0
SP140	11262	broad.mit.edu	37	2	231112644	231112644	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:231112644C>T	ENST00000392045.3	+	8	870	c.756C>T	c.(754-756)aaC>aaT	p.N252N	SP140_ENST00000350136.5_Intron|SP140_ENST00000420434.3_Silent_p.N252N|SP140_ENST00000486687.2_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000343805.6_Silent_p.N226N	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	252					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAGAAAGCAACGGGATGATAG	0.443000													32	70					0	0	0.002445	0	0
DNAH7	56171	broad.mit.edu	37	2	196664153	196664153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:196664153C>T	ENST00000312428.6	-	55	10320	c.10220G>A	c.(10219-10221)cGt>cAt	p.R3407H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3407	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						AATGAATGCACGTCCCAATCT	0.418000													28	75					0	0	0.002445	0	0
UBA1	7317	broad.mit.edu	37	X	47074277	47074277	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:47074277C>T	ENST00000335972.6	+	26	3309	c.3126C>T	c.(3124-3126)gaC>gaT	p.D1042D	UBA1_ENST00000377351.4_Silent_p.D1042D|UBA1_ENST00000377269.3_Silent_p.D490D	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	1042					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTGTAACGACGAGAGCGGCG	0.627000													23	16					0	0	0.003330	0	0
MUC5AC	4586	broad.mit.edu	37	11	1157901	1157901	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:1157901G>A	ENST00000356191.2	+	13	959	c.959G>A	c.(958-960)gGg>gAg	p.G320E						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CATGCAGGGGGGTTGCCCCAG	0.667000													10	31					0	0	0.006214	0	0
C7orf66	154907	broad.mit.edu	37	7	108524578	108524578	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:108524578C>G	ENST00000379007.2	-	1	66	c.12G>C	c.(10-12)gtG>gtC	p.V4V		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	4						integral to membrane		p.V4V(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TGGGTGTCATCACAGCCATCA	0.413000													3	54					0	0	0.004672	0	0
PMVK	10654	broad.mit.edu	37	1	154898882	154898882	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:154898882G>A	ENST00000368467.3	-	4	695	c.390C>T	c.(388-390)cgC>cgT	p.R130R		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	130					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACGCTACAACGCGGACCGTCT	0.627000													7	73					0	0	0.001984	0	0
CLTCL1	8218	broad.mit.edu	37	22	19209480	19209480	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:19209480C>G	ENST00000263200.10	-	16	2627	c.2555G>C	c.(2554-2556)aGa>aCa	p.R852T	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R852T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R852T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	852	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTACCTATTTCTTTTTTCTAC	0.418000			T	?	ALCL								7	106					0	0	0.003080	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775694	77775694	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:77775694T>C	ENST00000521891.2	+	11	10192	c.9744T>C	c.(9742-9744)aaT>aaC	p.N3248N	ZFHX4_ENST00000518282.1_Silent_p.N3222N|ZFHX4_ENST00000455469.2_Silent_p.N3203N|ZFHX4_ENST00000050961.6_Silent_p.N3199N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATTACAGAATGCAATTGCTG	0.443000										HNSCC(33;0.089)			39	134					0	0	0.005524	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40456555	40456555	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:40456555G>C	ENST00000378438.4	+	4	513	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	ATP6AP2_ENST00000544975.1_Missense_Mutation_p.E43Q|ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000535539.1_Intron|ATP6AP2_ENST00000486558.1_Intron	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	119					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTTATTTTCTGAGGAAACTCC	0.338000													8	21					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13901432	13901432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:13901432G>A	ENST00000265104.4	-	14	2085	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	661	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R661C(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGTAACTGCGAATTATAGGT	0.532000									Kartagener syndrome				16	30					0	0	0.004007	0	0
SNHG14	104472715	broad.mit.edu	37	15	25339225	25339225	+	RNA	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr15:25339225G>A	ENST00000546682.1	+	0	1110				SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TTGGAAAGCTGAACAAAATGA	0.393000													18	87					0	0	0.007413	0	0
FLG2	388698	broad.mit.edu	37	1	152327481	152327481	+	Silent	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:152327481A>G	ENST00000388718.5	-	3	2853	c.2781T>C	c.(2779-2781)tcT>tcC	p.S927S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	927	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTTGAGCCAGAACCATGTT	0.488000													498	306					0	0	0.003610	0	0
NOL4	8715	broad.mit.edu	37	18	31523045	31523045	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr18:31523045C>T	ENST00000261592.5	-	9	1823	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	NOL4_ENST00000535384.1_Missense_Mutation_p.R224H|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Missense_Mutation_p.R290H|NOL4_ENST00000538587.1_Missense_Mutation_p.R435H|NOL4_ENST00000269185.4_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	509						nucleolus	RNA binding	p.R509L(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCTCCAGACGCATCCTCTT	0.443000													10	56					0	0	0.001368	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854712	79854712	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:79854712G>C	ENST00000338682.3	-	5	1799	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	376						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AAGGCCAGCTGAGAGCTGGGA	0.438000													6	39					0	0	0.001168	0	0
FLT4	2324	broad.mit.edu	37	5	180057046	180057046	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:180057046C>A	ENST00000261937.6	-	5	651	c.573G>T	c.(571-573)atG>atT	p.M191I	FLT4_ENST00000502649.1_Missense_Mutation_p.M191I|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.M191I	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	191	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGACACGAGCATGCCCCGCC	0.637000													7	29					1.58986e-06	3.15655e-06	0.008291	1	0
EHBP1	23301	broad.mit.edu	37	2	63217961	63217961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:63217961G>A	ENST00000263991.5	+	18	3414	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	EHBP1_ENST00000405289.1_Missense_Mutation_p.E943K|EHBP1_ENST00000354487.3_Missense_Mutation_p.E943K|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.E907K|EHBP1_ENST00000431489.1_Missense_Mutation_p.E907K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	978						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGAGAGCTCAGAGCAGGACAT	0.418000													6	38					0	0	0.001984	0	0
GLI1	2735	broad.mit.edu	37	12	57863427	57863427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:57863427C>G	ENST00000228682.2	+	11	1613	c.1522C>G	c.(1522-1524)Caa>Gaa	p.Q508E	GLI1_ENST00000546141.1_Missense_Mutation_p.Q467E|GLI1_ENST00000543426.1_Missense_Mutation_p.Q380E	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	508					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCAGCTACATCAACTCCGGCC	0.607000													10	60					0	0	0.000978	0	0
CNGB3	54714	broad.mit.edu	37	8	87645041	87645041	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:87645041A>G	ENST00000320005.5	-	11	1306	c.1259T>C	c.(1258-1260)aTt>aCt	p.I420T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	420					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						TTGAAAAACAATTTCAAATAA	0.353000													14	19					0	0	0.001855	0	0
PSG5	5673	broad.mit.edu	37	19	43688992	43688992	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:43688992G>C	ENST00000404580.1	-	2	460	c.372C>G	c.(370-372)atC>atG	p.I124M	PSG5_ENST00000407356.1_Missense_Mutation_p.I124M|PSG5_ENST00000599812.1_Missense_Mutation_p.I124M|PSG5_ENST00000342951.6_Missense_Mutation_p.I124M|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000366175.3_Missense_Mutation_p.I124M|PSG5_ENST00000407568.1_Missense_Mutation_p.I124M			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	124	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)				CTCGCTTTATGATGTGTAAGG	0.493000													114	238					0	0	0.003610	0	0
KDM5D	8284	broad.mit.edu	37	Y	21877710	21877710	+	Splice_Site	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrY:21877710G>A	ENST00000541639.1	-	17	2592	c.2306_splice	c.e17+1	p.R769_splice	KDM5D_ENST00000317961.4_Splice_Site_p.R738_splice|KDM5D_ENST00000382806.2_Splice_Site_p.R681_splice	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	738					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CATGCTCACCGGAGGTACTGT	0.552000													67	9					0	0	0.003610	0	0
PHRF1	57661	broad.mit.edu	37	11	587346	587346	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:587346C>G	ENST00000264555.5	+	4	430	c.302C>G	c.(301-303)tCt>tGt	p.S101C	PHRF1_ENST00000416188.2_Missense_Mutation_p.S101C|PHRF1_ENST00000413872.2_Missense_Mutation_p.S100C|PHRF1_ENST00000533464.1_Missense_Mutation_p.S97C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	101							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTTTCAATTCTGATGATGAT	0.562000													17	31					0	0	0.004007	0	0
CRYBA4	1413	broad.mit.edu	37	22	27026341	27026341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:27026341C>T	ENST00000354760.3	+	6	516	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	161	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CCGAGGATTTCAGTATGTGCT	0.537000													12	35					0	0	0.000978	0	0
TTC37	9652	broad.mit.edu	37	5	94842673	94842673	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:94842673G>A	ENST00000358746.2	-	30	3355	c.3057C>T	c.(3055-3057)taC>taT	p.Y1019Y	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1019							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTGCAACATTGTAAGTATCTT	0.323000													15	32					0	0	0.004007	0	0
SNX18	112574	broad.mit.edu	37	5	53814496	53814496	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:53814496C>T	ENST00000343017.6	+	1	908	c.714C>T	c.(712-714)tcC>tcT	p.S238S	SNX18_ENST00000326277.3_Silent_p.S238S|SNX18_ENST00000381410.4_Silent_p.S238S	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	238					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TCGTCAAGTCCGGCGGGGAGG	0.706000													20	45					0	0	0.001523	0	0
SLC36A4	120103	broad.mit.edu	37	11	92918982	92918982	+	Splice_Site	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:92918982T>A	ENST00000326402.4	-	2	186		c.e2-2		SLC36A4_ENST00000529184.1_Splice_Site	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4						L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CATCCATATCTTTAAAAAAGA	0.333000													9	13					0	0	0.004482	0	0
EXD2	55218	broad.mit.edu	37	14	69701456	69701456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:69701456C>T	ENST00000409014.1	+	7	1039	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F	EXD2_ENST00000409675.1_Missense_Mutation_p.L128F|EXD2_ENST00000312994.5_Missense_Mutation_p.L253F|EXD2_ENST00000492815.1_Intron|EXD2_ENST00000449989.1_Missense_Mutation_p.L128F|EXD2_ENST00000409949.1_Missense_Mutation_p.L128F|EXD2_ENST00000409242.1_Missense_Mutation_p.L128F|EXD2_ENST00000409018.3_Missense_Mutation_p.L253F	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	128					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TTCAGTGGCTCTCTTTCTTCA	0.433000													9	26					0	0	0.006214	0	0
NALCN	259232	broad.mit.edu	37	13	101890129	101890129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:101890129G>A	ENST00000251127.6	-	12	1492	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y	NALCN_ENST00000376196.3_Missense_Mutation_p.H471Y|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	471						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATTGTGAATGATAAAGATCT	0.308000													39	130					0	0	0.006999	0	0
MYH8	4626	broad.mit.edu	37	17	10309390	10309390	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:10309390C>G	ENST00000403437.2	-	21	2494	c.2400G>C	c.(2398-2400)atG>atC	p.M800I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	800	IQ.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCTACCCTCATTAGGAATC	0.373000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	66					0	0	0.004482	0	0
TCN2	6948	broad.mit.edu	37	22	31010483	31010483	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:31010483C>T	ENST00000215838.3	+	4	1069	c.575C>T	c.(574-576)tCt>tTt	p.S192F	TCN2_ENST00000407817.3_Missense_Mutation_p.S165F|TCN2_ENST00000405742.3_Missense_Mutation_p.S188F			P20062	TCO2_HUMAN	transcobalamin II	192	Cobalamin binding.				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCCACCATTCTGTGGGTGAG	0.602000													9	17					0	0	0.000978	0	0
CCDC36	339834	broad.mit.edu	37	3	49294689	49294689	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:49294689G>C	ENST00000438782.1	+	8	1995	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H	CCDC36_ENST00000296449.5_Missense_Mutation_p.D587H|CCDC36_ENST00000452691.2_Missense_Mutation_p.D587H			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	587										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CCTGGGTTTTGATAGCAGTGA	0.478000													3	162					0	0	0.000248	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779410	205779410	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:205779410G>A	ENST00000367137.3	-	2	1174	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	54						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCGTTGGCCCGAGACTCAATC	0.652000											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	99					0	0	0.008291	0	0
IKBKB	3551	broad.mit.edu	37	8	42179657	42179657	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:42179657C>G	ENST00000520810.1	+	18	2010	c.1824C>G	c.(1822-1824)atC>atG	p.I608M	IKBKB_ENST00000416505.2_Missense_Mutation_p.I549M|IKBKB_ENST00000379708.3_Missense_Mutation_p.I385M|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.I606M	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	608					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TGCGAGTGATCTATACGCAGC	0.557000													8	63					0	0	0.006214	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202457699	202457699	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:202457699C>G	ENST00000406302.3	+	14	2042	c.1889C>G	c.(1888-1890)tCt>tGt	p.S630C	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S630C|PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000367270.4_5'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	630					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAAGCAGAGTCTTTACGGAAA	0.433000													41	24					0	0	0.002852	0	0
GPR125	166647	broad.mit.edu	37	4	22517230	22517230	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:22517230C>T	ENST00000334304.5	-	1	447	c.178G>A	c.(178-180)Gag>Aag	p.E60K	GPR125_ENST00000502482.1_Missense_Mutation_p.E60K	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	60					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACCTTGCCCTCGGCGGCGCCC	0.761000													11	11					0	0	0.008291	0	0
CR1	1378	broad.mit.edu	37	1	207741206	207741206	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:207741206G>A	ENST00000367049.4	+	25	3990	c.3990G>A	c.(3988-3990)ggG>ggA	p.G1330G	CR1_ENST00000367051.1_Silent_p.G880G|CR1_ENST00000400960.2_Silent_p.G880G|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|CR1_ENST00000367053.1_Silent_p.G880G	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	880	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCCTAATGGGAGACACACAG	0.433000													10	367					0	0	0.008291	0	0
REN	5972	broad.mit.edu	37	1	204128555	204128555	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:204128555C>G	ENST00000367195.2	-	5	704	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	REN_ENST00000272190.8_Missense_Mutation_p.E221Q			P00797	RENI_HUMAN	renin	221					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAGACGTCCTCTTTTAGCACC	0.562000													18	104					0	0	0.006122	0	0
SBNO1	55206	broad.mit.edu	37	12	123780467	123780467	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:123780467C>G	ENST00000420886.2	-	31	4169	c.4170G>C	c.(4168-4170)ttG>ttC	p.L1390F	SBNO1_ENST00000267176.4_Missense_Mutation_p.L1389F|SBNO1_ENST00000602750.1_Missense_Mutation_p.L1389F|SBNO1_ENST00000602398.1_Missense_Mutation_p.L1390F	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1390							ATP binding|DNA binding|hydrolase activity	p.L1389F(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATGCGTTGCTCAAGTTGGTGA	0.428000													8	257					0	0	0.004482	0	0
PCLO	27445	broad.mit.edu	37	7	82475906	82475906	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:82475906T>A	ENST00000423517.2	-	12	14145	c.13808A>T	c.(13807-13809)gAa>gTa	p.E4603V	PCLO_ENST00000333891.8_Missense_Mutation_p.E4603V|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4491	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						CTCATGAAGTTCCAGATGCTG	0.338000													19	17					0	0	0.001523	0	0
LNPEP	4012	broad.mit.edu	37	5	96320825	96320825	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:96320825C>G	ENST00000231368.5	+	3	1594	c.902C>G	c.(901-903)tCt>tGt	p.S301C	LNPEP_ENST00000395770.3_Missense_Mutation_p.S287C	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	301				S -> L (in Ref. 6; AA sequence).	cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GCAGCAAGATCTGCTTTTCCT	0.403000													22	87					0	0	0.003330	0	0
KRT27	342574	broad.mit.edu	37	17	38938473	38938473	+	Silent	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:38938473G>C	ENST00000301656.3	-	1	313	c.273C>G	c.(271-273)ctC>ctG	p.L91L		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	91	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGCGGTCGTTGAGGTTCTGCA	0.572000													33	63					0	0	0.002836	0	0
DNMT3A	1788	broad.mit.edu	37	2	25463307	25463307	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:25463307C>T	ENST00000264709.3	-	19	2523	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R729Q|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R506Q|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R540Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	729					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)					AAAGAAGAGCCGGCCAGTGCC	0.612000			"""Mis, F, N, S"""		AML								30	28					0	0	0.007291	0	0
ZNF91	7644	broad.mit.edu	37	19	23542840	23542840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:23542840G>A	ENST00000300619.7	-	4	3146	c.2941C>T	c.(2941-2943)Ctt>Ttt	p.L981F	ZNF91_ENST00000397082.2_Missense_Mutation_p.L949F|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	981						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTTCAGTAAGAGTTGAAGAT	0.378000													5	48					0	0	0.000602	0	0
CPED1	79974	broad.mit.edu	37	7	120764400	120764400	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:120764400G>C	ENST00000310396.5	+	8	1401	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	CPED1_ENST00000450913.2_Missense_Mutation_p.E312Q|CPED1_ENST00000423795.1_Missense_Mutation_p.E92Q	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AACATTTTTTGAGACATTCCT	0.393000													16	53					0	0	0.004990	0	0
CFH	3075	broad.mit.edu	37	1	196709904	196709904	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:196709904C>T	ENST00000367429.4	+	18	3178	c.2938C>T	c.(2938-2940)Cac>Tac	p.H980Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	980	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAAATGGTCTCACCCTCCATC	0.338000													8	113					0	0	0.006214	0	0
AGRN	375790	broad.mit.edu	37	1	978800	978800	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:978800C>T	ENST00000379370.2	+	8	1616	c.1566C>T	c.(1564-1566)ctC>ctT	p.L522L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	522	Kazal-like 5.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCTGTACCCTCGGGCGGGAGA	0.682000													5	16					0	0	0.001168	0	0
CNGB3	54714	broad.mit.edu	37	8	87738776	87738776	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:87738776C>T	ENST00000320005.5	-	3	368	c.321G>A	c.(319-321)ggG>ggA	p.G107G	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	107			G -> R (in ACHM3; uncertain pathogenicity).		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						GACCTTCTTTCCCGGGGTCCA	0.453000													64	241					0	0	0.003610	0	0
KIF13B	23303	broad.mit.edu	37	8	28974435	28974435	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:28974435G>A	ENST00000524189.1	-	31	3788	c.3750C>T	c.(3748-3750)atC>atT	p.I1250I	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1250					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCACGCGCACGATCAGGAACA	0.602000													26	63					0	0	0.004656	0	0
DLEC1	9940	broad.mit.edu	37	3	38081086	38081086	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:38081086G>A	ENST00000308059.6	+	1	391	c.370G>A	c.(370-372)Gag>Aag	p.E124K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E124K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E124K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	124					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCGCGGCAGCGAGAATGAGCG	0.647000													23	39					0	0	0.002299	0	0
KLHL12	59349	broad.mit.edu	37	1	202863774	202863774	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:202863774C>G	ENST00000367261.3	-	9	1457	c.1239G>C	c.(1237-1239)caG>caC	p.Q413H	KLHL12_ENST00000367259.1_Missense_Mutation_p.Q146H|KLHL12_ENST00000435533.3_Missense_Mutation_p.Q451H	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	413	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)			CCCGGGCTGTCTGCATATCTC	0.527000													28	262					0	0	0.006320	0	0
CHIT1	1118	broad.mit.edu	37	1	203186208	203186208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:203186208G>A	ENST00000367229.1	-	11	1244	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	CHIT1_ENST00000535569.1_Nonsense_Mutation_p.Q395*|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.Q385*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	404					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCAGAGGGCTGACCTGGTTTT	0.567000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	122					0	0	0.001368	0	0
SNX25	83891	broad.mit.edu	37	4	186231908	186231908	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:186231908C>A	ENST00000504273.1	+	7	1084	c.790C>A	c.(790-792)Cct>Act	p.P264T	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.P264T			Q9H3E2	SNX25_HUMAN	sorting nexin 25	264					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CCTGGGAGGCCCTGCCTATGA	0.512000													14	80					4.14922e-12	8.45993e-12	0.004007	1	0
OSGIN2	734	broad.mit.edu	37	8	90937360	90937360	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:90937360C>T	ENST00000451899.2	+	6	1510	c.1250C>T	c.(1249-1251)tCt>tTt	p.S417F	OSGIN2_ENST00000297438.2_Missense_Mutation_p.S373F	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	373					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)			AATCTTTTATCTGATTATACC	0.358000													14	152					0	0	0.008871	0	0
AHDC1	27245	broad.mit.edu	37	1	27875878	27875878	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:27875878C>T	ENST00000374011.2	-	6	3717	c.2749G>A	c.(2749-2751)Gcg>Acg	p.A917T	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.A917T	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	917							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCTGGCGCGCGGACAGGACA	0.697000													16	43					0	0	0.004007	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68925156	68925156	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:68925156C>G	ENST00000356291.2	-	9	1105	c.1046G>C	c.(1045-1047)aGa>aCa	p.R349T	RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	349	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GGTTTCCACTCTGGCTTGCCG	0.358000													12	21					0	0	0.000978	0	0
TLN2	83660	broad.mit.edu	37	15	63128147	63128147	+	Missense_Mutation	SNP	C	C	G	rs140723056	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr15:63128147C>G	ENST00000561311.1	+	56	7479	c.7249C>G	c.(7249-7251)Cag>Gag	p.Q2417E	TLN2_ENST00000306829.6_Missense_Mutation_p.Q2417E|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2417	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGCCTCCGTTCAGGGACACGC	0.647000													5	37					0	0	0.000602	0	0
GABPA	2551	broad.mit.edu	37	21	27130510	27130510	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr21:27130510G>A	ENST00000354828.3	+	6	1270	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	GABPA_ENST00000400075.3_Missense_Mutation_p.R248Q	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	248	PNT.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.R248Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GAACTTCTCCGAAAATGTATG	0.328000													13	28					0	0	0.001855	0	0
PADI2	11240	broad.mit.edu	37	1	17397918	17397918	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:17397918C>T	ENST00000375486.4	-	14	1681	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.E424K	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	540					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TACAGGTTCTCCTGCACAAGG	0.597000													15	39					0	0	0.007413	0	0
CCT3	7203	broad.mit.edu	37	1	156290786	156290786	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:156290786C>G	ENST00000295688.3	-	7	733	c.453G>C	c.(451-453)atG>atC	p.M151I	CCT3_ENST00000472765.2_Missense_Mutation_p.M106I|CCT3_ENST00000368261.3_Missense_Mutation_p.M106I|CCT3_ENST00000368259.2_Missense_Mutation_p.M113I	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	151					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TGTTCAGCATCATATCACTGT	0.423000													8	109					0	0	0.003080	0	0
TBX1	6899	broad.mit.edu	37	22	19766783	19766783	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:19766783G>A	ENST00000329705.7	+	9	1179	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	350			T -> M (in dbSNP:rs4819522).		embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				AAGCTGAGACGTCTAGGAACA	0.547000													23	137					0	0	0.002780	0	0
GJB2	2706	broad.mit.edu	37	13	20763385	20763385	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:20763385C>T	ENST00000382844.1	-	1	534	c.336G>A	c.(334-336)aaG>aaA	p.K112K	GJB2_ENST00000382848.4_Silent_p.K112K			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	112				K -> N (in Ref. 4; AAY25170).	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TAAATTCACTCTTTATCTCCC	0.532000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	57					0	0	0.007413	0	0
SCN8A	6334	broad.mit.edu	37	12	52201213	52201213	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:52201213G>C	ENST00000354534.5	+	27	6121	c.5943G>C	c.(5941-5943)taG>taC	p.*1981Y	SCN8A_ENST00000545061.1_Nonstop_Mutation_p.*1940Y	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	0					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCAAGTGTTAGAGGAGAACAA	0.393000													2	4					0	0	0.004672	0	0
VEPH1	79674	broad.mit.edu	37	3	157146114	157146114	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:157146114G>A	ENST00000362010.2	-	5	1000	c.693C>T	c.(691-693)ctC>ctT	p.L231L	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392833.2_Silent_p.L231L|VEPH1_ENST00000392832.2_Silent_p.L231L|VEPH1_ENST00000543418.1_Silent_p.L231L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	231						plasma membrane		p.L231L(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTTTTACCTCGAGTTGTTTTT	0.438000													6	69					0	0	0.001984	0	0
IL10RA	3587	broad.mit.edu	37	11	117864051	117864051	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:117864051G>T	ENST00000227752.3	+	4	583	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	IL10RA_ENST00000545409.1_Missense_Mutation_p.D6Y|IL10RA_ENST00000541785.1_Missense_Mutation_p.D135Y|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	155						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCCCGCAAATGACACATATGA	0.527000													4	38					0.00024832	0.000485937	0.000248	1	0
HPGD	3248	broad.mit.edu	37	4	175414436	175414436	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:175414436C>T	ENST00000296522.6	-	6	974	c.528G>A	c.(526-528)gtG>gtA	p.V176V	HPGD_ENST00000542498.1_Intron|HPGD_ENST00000541923.1_Silent_p.V55V|HPGD_ENST00000510901.1_Silent_p.V55V|HPGD_ENST00000296521.7_Intron|HPGD_ENST00000422112.2_Silent_p.V108V	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	176					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	CATTCAGTCTCACACCACTGT	0.363000													9	45					0	0	0.008291	0	0
ERCC4	2072	broad.mit.edu	37	16	14020442	14020442	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:14020442G>A	ENST00000311895.7	+	3	422	c.413G>A	c.(412-414)aGa>aAa	p.R138K	ERCC4_ENST00000575156.1_Missense_Mutation_p.R138K	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	138					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGAGCCCACAGAATAATCGAG	0.388000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	98					0	0	0.001984	0	0
FBXO42	54455	broad.mit.edu	37	1	16641805	16641805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:16641805C>G	ENST00000375592.3	-	2	325	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	37										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TCCTCAGCCTCCAATACTGGG	0.498000													5	52					0	0	0.000602	0	0
HACL1	26061	broad.mit.edu	37	3	15609959	15609959	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:15609959C>T	ENST00000321169.5	-	13	1597	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	HACL1_ENST00000451445.2_Silent_p.Q328Q|HACL1_ENST00000457447.2_Silent_p.Q350Q|HACL1_ENST00000456194.2_Silent_p.Q383Q|HACL1_ENST00000435217.2_Silent_p.Q169Q	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	410	Thiamine pyrophosphate binding.				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GAAGGTAGTTCTGAAGCACAG	0.368000													5	40					0	0	0.000602	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664680	38664680	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:38664680C>G	ENST00000336949.6	+	2	1426	c.481C>G	c.(481-483)Ctc>Gtc	p.L161V	MID1IP1_ENST00000457894.1_Missense_Mutation_p.L161V|MID1IP1_ENST00000378474.3_Missense_Mutation_p.L161V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	161					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						GCTCTCGAAACTCACGCGCAA	0.627000													11	7					0	0	0.008291	0	0
COL8A1	1295	broad.mit.edu	37	3	99513335	99513335	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:99513335G>A	ENST00000261037.3	+	5	970	c.590G>A	c.(589-591)gGa>gAa	p.G197E	COL8A1_ENST00000273342.4_Missense_Mutation_p.G197E	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	197	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGACCACAAGGACCTCCAGGG	0.587000													5	58					0	0	0.000602	0	0
MBD5	55777	broad.mit.edu	37	2	149227843	149227843	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:149227843C>T	ENST00000407073.1	+	9	3328	c.2331C>T	c.(2329-2331)aaC>aaT	p.N777N	MBD5_ENST00000404807.1_Silent_p.N777N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	777						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGTCCCCAACCACCATCTTG	0.463000													21	63					0	0	0.008871	0	0
KIAA1755	85449	broad.mit.edu	37	20	36850870	36850870	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:36850870C>G	ENST00000279024.4	-	10	2669	c.2398G>C	c.(2398-2400)Gac>Cac	p.D800H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	800										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGGCTGAAGTCCAGCCTGCTG	0.642000											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	95					0	0	0.008291	0	0
KIAA0391	9692	broad.mit.edu	37	14	35593231	35593231	+	Silent	SNP	A	A	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:35593231A>C	ENST00000557565.1	+	2	1161	c.780A>C	c.(778-780)gtA>gtC	p.V260V	KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Silent_p.V165V|KIAA0391_ENST00000250377.7_Silent_p.V165V|KIAA0391_ENST00000603544.1_Silent_p.V260V|KIAA0391_ENST00000321130.10_Silent_p.V260V|KIAA0391_ENST00000534898.4_Silent_p.V260V			O15091	MRRP3_HUMAN	KIAA0391	260					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		ATCAAGATGTAAACACAGCTT	0.343000													9	20					0	0	0.004482	0	0
FRY	10129	broad.mit.edu	37	13	32869543	32869543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:32869543C>A	ENST00000380250.3	+	61	9484	c.8988C>A	c.(8986-8988)taC>taA	p.Y2996*	FRY_ENST00000380217.1_Nonsense_Mutation_p.Y178*|FRY_ENST00000542859.1_Nonsense_Mutation_p.Y366*	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2996					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)		CCCAGAGTTACCGAGTCCTCA	0.567000													20	46					1.2644e-06	2.51772e-06	0.001523	1	0
MYH7	4625	broad.mit.edu	37	14	23884302	23884302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:23884302C>G	ENST00000355349.3	-	37	5623	c.5461G>C	c.(5461-5463)Gag>Cag	p.E1821Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1821					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)		TTCTCCAGCTCCCGCACCCGC	0.627000													16	109					0	0	0.006122	0	0
NEB	4703	broad.mit.edu	37	2	152499769	152499769	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:152499769C>G	ENST00000397345.3	-	58	8257	c.8055G>C	c.(8053-8055)ttG>ttC	p.L2685F	NEB_ENST00000603639.1_Missense_Mutation_p.L2685F|NEB_ENST00000427231.2_Missense_Mutation_p.L2685F|NEB_ENST00000604864.1_Missense_Mutation_p.L2685F|NEB_ENST00000172853.10_Missense_Mutation_p.L2685F|NEB_ENST00000409198.1_Missense_Mutation_p.L2685F	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2685					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)		CATGGTCACTCAAAATCTGGG	0.413000													3	109					0	0	0.000248	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204400897	204400897	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:204400897C>G	ENST00000367187.3	-	29	4736	c.4180G>C	c.(4180-4182)Gag>Cag	p.E1394Q	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.E1366Q|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1394	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGAGTGTTCTCTCGCATCACC	0.532000											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	275					0	0	0.007291	0	0
SAMD10	140700	broad.mit.edu	37	20	62608706	62608706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:62608706C>T	ENST00000369886.3	-	2	319	c.145G>A	c.(145-147)Gag>Aag	p.E49K	SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	49										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGATGCTCTCAGCTGACACC	0.652000													9	92					0	0	0.006214	0	0
LRRN1	57633	broad.mit.edu	37	3	3888390	3888390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:3888390G>T	ENST00000319331.3	+	2	2826	c.2065G>T	c.(2065-2067)Gaa>Taa	p.E689*	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	689						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TAACCTCTGGGAAGGTGACAG	0.413000													19	9					2.35188e-11	4.76676e-11	0.006122	1	0
KIAA0100	9703	broad.mit.edu	37	17	26965108	26965108	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:26965108C>G	ENST00000528896.2	-	14	1591	c.1517G>C	c.(1516-1518)aGc>aCc	p.S506T	KIAA0100_ENST00000544884.1_Missense_Mutation_p.S363T|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S363T	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	506						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGGTTATAGCTACCCTAGAG	0.498000													12	54					0	0	0.001855	0	0
AKT1	207	broad.mit.edu	37	14	105246455	105246455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:105246455C>T	ENST00000554581.1	-	2	1625	c.145G>A	c.(145-147)Gag>Aag	p.E49K	AKT1_ENST00000555528.1_Missense_Mutation_p.E49K|AKT1_ENST00000554848.1_Missense_Mutation_p.E49K|AKT1_ENST00000407796.2_Missense_Mutation_p.E49K|AKT1_ENST00000402615.2_Missense_Mutation_p.E49K|AKT1_ENST00000349310.3_Missense_Mutation_p.E49K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	49	PH.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E49K(1)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AGGGGAGCCTCACGTTGGTCC	0.587000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								11	13					0	0	0.002450	0	0
IFI27L1	122509	broad.mit.edu	37	14	94567115	94567115	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:94567115G>C	ENST00000556381.1	+	4	391	c.56G>C	c.(55-57)gGa>gCa	p.G19A	IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000393115.3_Missense_Mutation_p.G20A|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R42S|IFI27L1_ENST00000555523.1_Missense_Mutation_p.G20A|IFI27L1_ENST00000554562.1_Missense_Mutation_p.G20A|IFI27L1_ENST00000557066.1_Missense_Mutation_p.G20A|IFI27L1_ENST00000557218.1_Missense_Mutation_p.G20A			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	20						integral to membrane				lung(2)	2						GTGGTCGGAGGAGGTGAGTCT	0.542000													14	62					0	0	0.002450	0	0
PRLR	5618	broad.mit.edu	37	5	35086419	35086419	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:35086419C>G	ENST00000382002.5	-	4	520	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	PRLR_ENST00000310101.5_Missense_Mutation_p.E32Q|PRLR_ENST00000231423.3_Missense_Mutation_p.E32Q|PRLR_ENST00000542609.1_Missense_Mutation_p.E32Q|PRLR_ENST00000513753.1_Missense_Mutation_p.E32Q|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000348262.3_Missense_Mutation_p.E32Q|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	32	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTAAAGATCTCAGGTTTTCCA	0.448000													16	55					0	0	0.006122	0	0
PREP	5550	broad.mit.edu	37	6	105816838	105816838	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:105816838C>A	ENST00000369110.3	-	6	849	c.657G>T	c.(655-657)caG>caT	p.Q219H		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	219					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TATCTTCTGACTGATCGGTTC	0.418000													23	33					5.35356e-11	1.07863e-10	0.002780	1	0
BOC	91653	broad.mit.edu	37	3	112998239	112998239	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:112998239A>T	ENST00000495514.1	+	12	2661	c.1957A>T	c.(1957-1959)Att>Ttt	p.I653F	BOC_ENST00000273395.4_Missense_Mutation_p.I654F|BOC_ENST00000355385.3_Missense_Mutation_p.I653F			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	653	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGAGACTGGATTCTGGCCAC	0.602000													9	47					0	0	0.004482	0	0
MBTPS1	8720	broad.mit.edu	37	16	84108251	84108251	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:84108251T>A	ENST00000343411.3	-	12	2039	c.1544A>T	c.(1543-1545)aAt>aTt	p.N515I	MBTPS1_ENST00000569770.1_Intron	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	515					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						GATGGTGACATTAACAACTGT	0.478000													16	27					0	0	0.006122	0	0
PAWR	5074	broad.mit.edu	37	12	79988212	79988212	+	Splice_Site	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:79988212T>A	ENST00000328827.4	-	6	1205	c.831_splice	c.e6-1	p.E278_splice		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	278					actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TCTTACTACTTCCTGGTAGAT	0.294000													8	16					0	0	0.003080	0	0
BRCA2	675	broad.mit.edu	37	13	32950881	32950881	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:32950881G>A	ENST00000544455.1	+	21	8934	c.8707G>A	c.(8707-8709)Gag>Aag	p.E2903K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E2903K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2903					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGATGGTGCAGAGCTTTATGA	0.388000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			5	26					0	0	0.000602	0	0
ATP2A2	488	broad.mit.edu	37	12	110764234	110764234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:110764234C>T	ENST00000395494.2	+	6	1066	c.503C>T	c.(502-504)cCt>cTt	p.P168L	ATP2A2_ENST00000539276.2_Missense_Mutation_p.P195L|ATP2A2_ENST00000308664.6_Missense_Mutation_p.P195L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	195					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GATCCCGTCCCTGACCCACGA	0.423000													4	25					0	0	0.000602	0	0
PHPT1	29085	broad.mit.edu	37	9	139744530	139744530	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:139744530G>A	ENST00000545326.1	+	2	853	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	PHPT1_ENST00000371661.1_Missense_Mutation_p.G76S|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000247665.10_Missense_Mutation_p.G76S	NM_001135861.1	NP_001129333.1	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	76						cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GTGTCTGGGCGGCGGGCGCAT	0.647000													47	20					0	0	0.003610	0	0
NCOA6	23054	broad.mit.edu	37	20	33329653	33329653	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:33329653T>C	ENST00000374796.2	-	12	6977	c.4407A>G	c.(4405-4407)aaA>aaG	p.K1469K	NCOA6_ENST00000359003.2_Silent_p.K1469K			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1469					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CACTGGGAAGTTTGTTAGGAT	0.448000													31	140					0	0	0.002836	0	0
LPAL2	80350	broad.mit.edu	37	6	160899548	160899548	+	RNA	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:160899548G>C	ENST00000335388.5	-	0	1336					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		ACCTGCTTCAGAATGAGCCTC	0.453000													9	47					0	0	0.006214	0	0
SPARC	6678	broad.mit.edu	37	5	151052775	151052775	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:151052775T>C	ENST00000231061.4	-	4	436	c.123A>G	c.(121-123)gtA>gtG	p.V41V		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	41	Asp/Glu-rich (acidic; binds calcium).				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	CTCCCACAGATACCTGGAATT	0.522000													34	67					0	0	0.003755	0	0
ABCA13	154664	broad.mit.edu	37	7	48318187	48318187	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:48318187C>G	ENST00000435803.1	+	18	7420	c.7396C>G	c.(7396-7398)Cta>Gta	p.L2466V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2466					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						TTCATTCCCTCTAAGAAACAG	0.358000													12	129					0	0	0.001368	0	0
CNKSR2	22866	broad.mit.edu	37	X	21545080	21545080	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:21545080C>T	ENST00000425654.2	+	10	1533	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	CNKSR2_ENST00000543067.1_Silent_p.L302L|CNKSR2_ENST00000279451.4_Silent_p.L351L|CNKSR2_ENST00000379510.3_Silent_p.L351L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	351	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TCCAGGATCTCTACATTCCCC	0.483000													16	137					0	0	0.004007	0	0
JPH3	57338	broad.mit.edu	37	16	87678544	87678544	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:87678544C>T	ENST00000284262.2	+	2	1305	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	355					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CATCCCCCTGCGGGCCAGCAA	0.652000													10	24					0	0	0.006214	0	0
HK3	3101	broad.mit.edu	37	5	176308467	176308467	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:176308467G>A	ENST00000292432.5	-	18	2554	c.2463C>T	c.(2461-2463)gaC>gaT	p.D821D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	821	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATCAGGGCGTCATCTGAGG	0.652000													9	17					0	0	0.006214	0	0
GRM1	2911	broad.mit.edu	37	6	146720758	146720758	+	Silent	SNP	C	C	T	rs148042148		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:146720758C>T	ENST00000392299.2	+	8	3053	c.2583C>T	c.(2581-2583)ggC>ggT	p.G861G	GRM1_ENST00000355289.4_Silent_p.G861G|GRM1_ENST00000361719.2_Silent_p.G861G|GRM1_ENST00000507907.1_Silent_p.G861G|GRM1_ENST00000492807.2_Silent_p.G861G|GRM1_ENST00000282753.1_Silent_p.G861G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	861					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)	TGCATGTTGGCGATGGCAAGC	0.522000													12	25					0	0	0.001368	0	0
PLCG1	5335	broad.mit.edu	37	20	39791883	39791883	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:39791883G>C	ENST00000373272.2	+	8	1162	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	PLCG1_ENST00000373271.1_Missense_Mutation_p.E253Q|PLCG1_ENST00000244007.3_Missense_Mutation_p.E253Q	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	253					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTCCCTTCCTGAGTTCCAGCA	0.607000													20	111					0	0	0.002299	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18775924	18775924	+	Silent	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:18775924G>T	ENST00000268835.2	+	5	484	c.201G>T	c.(199-201)gtG>gtT	p.V67V	PRPSAP2_ENST00000542013.1_Silent_p.V67V|PRPSAP2_ENST00000419071.2_Intron|PRPSAP2_ENST00000536323.1_5'UTR	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	67					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						AAGAGTCTGTGAGGGGAAAAG	0.348000													41	168					1.57019e-19	3.30031e-19	0.007835	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72500862	72500862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:72500862C>T	ENST00000373208.1	+	12	1877	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.S623F	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	623	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AAGCGCAACTCCTACTATGTG	0.617000													13	33					0	0	0.001855	0	0
GBX2	2637	broad.mit.edu	37	2	237075004	237075004	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:237075004C>A	ENST00000551105.1	-	3	674	c.637G>T	c.(637-639)Gct>Tct	p.A213S	GBX2_ENST00000306318.4_Silent_p.S200S|GBX2_ENST00000465889.1_5'UTR			P52951	GBX2_HUMAN	gastrulation brain homeobox 2	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGCTCTCCAGCGAGAAGCTCT	0.602000													39	79					2.75727e-19	5.75982e-19	0.004878	1	0
TRIM67	440730	broad.mit.edu	37	1	231335933	231335933	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:231335933C>T	ENST00000444294.3	+	4	2161	c.1303C>T	c.(1303-1305)Cgt>Tgt	p.R435C	TRIM67_ENST00000366652.2_Missense_Mutation_p.R435C|TRIM67_ENST00000366653.5_Missense_Mutation_p.R435C|TRIM67_ENST00000449018.3_Missense_Mutation_p.R373C	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	435						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ATTGAAGCTGCGTCAGTCCAC	0.532000													14	219					0	0	0.004007	0	0
DIDO1	11083	broad.mit.edu	37	20	61541176	61541176	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:61541176C>G	ENST00000266070.4	-	4	1361	c.1036G>C	c.(1036-1038)Gat>Cat	p.D346H	DIDO1_ENST00000395340.1_Missense_Mutation_p.D346H|DIDO1_ENST00000370366.1_Missense_Mutation_p.D346H|DIDO1_ENST00000395335.2_Missense_Mutation_p.D346H|DIDO1_ENST00000395343.1_Missense_Mutation_p.D346H|DIDO1_ENST00000370368.1_Missense_Mutation_p.D346H|DIDO1_ENST00000266071.5_Missense_Mutation_p.D346H|DIDO1_ENST00000370371.4_Missense_Mutation_p.D346H|DIDO1_ENST00000354665.4_Missense_Mutation_p.D346H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	346					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCGGTGCCATCAGCATCTCCA	0.458000													7	170					0	0	0.001984	0	0
CCDC181	57821	broad.mit.edu	37	1	169391472	169391472	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:169391472G>C	ENST00000545005.1	-	4	704	c.197C>G	c.(196-198)tCt>tGt	p.S66C	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.S66C|CCDC181_ENST00000367805.3_Missense_Mutation_p.S66C					coiled-coil domain containing 181																		GTCAGGATCAGAATGCCGTTT	0.378000													8	84					0	0	0.004482	0	0
PMS1	5378	broad.mit.edu	37	2	190719576	190719576	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:190719576T>C	ENST00000441310.2	+	9	1811	c.1578T>C	c.(1576-1578)tgT>tgC	p.C526C	PMS1_ENST00000432292.3_Silent_p.C350C|PMS1_ENST00000447232.2_Silent_p.C526C|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Silent_p.C487C|PMS1_ENST00000418224.3_Silent_p.C350C	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	526					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GTTTACCATGTAAAGTAAGTA	0.294000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					12	30					0	0	0.001855	0	0
LRGUK	136332	broad.mit.edu	37	7	133812362	133812362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:133812362G>A	ENST00000285928.2	+	1	311	c.242G>A	c.(241-243)gGc>gAc	p.G81D	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	81							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAGGACCAGGGCGAGGGCGAG	0.612000													7	40					0	0	0.003080	0	0
PDS5A	23244	broad.mit.edu	37	4	39843630	39843630	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:39843630C>G	ENST00000303538.8	-	31	4134	c.3595G>C	c.(3595-3597)Gag>Cag	p.E1199Q		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1199					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACAGGGTTCTCTTCATTTTCA	0.343000													4	41					0	0	0.000602	0	0
MAST1	22983	broad.mit.edu	37	19	12969220	12969220	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:12969220C>T	ENST00000251472.4	+	11	1161	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	MAST1_ENST00000591495.1_Silent_p.F370F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	374	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAATGACTTCGATACCATCA	0.617000													21	131					0	0	0.002299	0	0
SHISA3	152573	broad.mit.edu	37	4	42403210	42403210	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:42403210C>G	ENST00000319234.4	+	2	677	c.459C>G	c.(457-459)acC>acG	p.T153T		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	153					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TGACCTCCACCAGCCCCAGGG	0.647000													30	108					0	0	0.002096	0	0
TTC21A	199223	broad.mit.edu	37	3	39156090	39156090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:39156090G>A	ENST00000301819.6	+	6	750	c.573G>A	c.(571-573)atG>atA	p.M191I	TTC21A_ENST00000440121.1_Missense_Mutation_p.M150I|TTC21A_ENST00000431162.2_Missense_Mutation_p.M191I	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	191							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTACTTCATGATGCAGCAGA	0.557000													62	57					0	0	0.003610	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984115	41984115	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:41984115C>T	ENST00000333141.5	+	1	403	c.306C>T	c.(304-306)atC>atT	p.I102I		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	102										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						ACGGCATCATCAGCCTGCGAA	0.557000													17	42					0	0	0.004007	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502856	90502856	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:90502856A>G	ENST00000325643.5	+	4	3520	c.3454A>G	c.(3454-3456)Acc>Gcc	p.T1152A		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCCTCTGTCCACCTCCCAGAG	0.642000													8	32					0	0	0.004482	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573801	136573801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:136573801C>T	ENST00000446465.2	+	2	1127	c.499C>T	c.(499-501)Cga>Tga	p.R167*	RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Nonsense_Mutation_p.R167*|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	167	DUF6 1.					Golgi apparatus|integral to membrane											ATACAGATTACGACTCTTCTT	0.408000													34	160					0	0	0.003755	0	0
FSCN3	29999	broad.mit.edu	37	7	127240328	127240328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:127240328G>A	ENST00000265825.5	+	6	1591	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	FSCN3_ENST00000420086.2_Missense_Mutation_p.R322Q	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	458						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTTCTGTATCGAGCTTCAGGG	0.537000													6	59					0	0	0.001168	0	0
C8G	733	broad.mit.edu	37	9	139840948	139840948	+	Silent	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:139840948G>C	ENST00000224181.3	+	5	546	c.486G>C	c.(484-486)ctG>ctC	p.L162L	C8G_ENST00000465773.1_3'UTR	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	162					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		ACTCGGTCCTGAGTGGGTTTG	0.657000													3	19					0	0	0.004672	0	0
OBSCN	84033	broad.mit.edu	37	1	228432256	228432256	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:228432256C>T	ENST00000570156.2	+	12	3815	c.3741C>T	c.(3739-3741)ttC>ttT	p.F1247F	OBSCN_ENST00000284548.11_Silent_p.F1155F|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.F1155F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	197	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTCTCCTTCCACCTGCACA	0.542000													11	196					0	0	0.000978	0	0
ENTPD7	57089	broad.mit.edu	37	10	101451214	101451214	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:101451214G>A	ENST00000370489.4	+	8	960	c.782G>A	c.(781-783)gGa>gAa	p.G261E		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	261						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GATATGGGAGGAGCCTCTCTC	0.453000													7	37					0	0	0.001984	0	0
MYBL1	4603	broad.mit.edu	37	8	67514655	67514655	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:67514655C>T	ENST00000522677.3	-	2	534	c.124G>A	c.(124-126)Gag>Aag	p.E42K	MYBL1_ENST00000517885.1_Missense_Mutation_p.E42K|MYBL1_ENST00000524176.2_Missense_Mutation_p.E42K	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	42	HTH myb-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATAATTACCTCGTCCCTTGTC	0.408000													16	45					0	0	0.004990	0	0
QRFPR	84109	broad.mit.edu	37	4	122250496	122250496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:122250496C>A	ENST00000394427.2	-	6	1680	c.1269G>T	c.(1267-1269)gaG>gaT	p.E423D	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	423						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AAGGAGAATTCTCAGCCAGTT	0.368000													23	55					1.10513e-12	2.2737e-12	0.002299	1	0
ZNF266	10781	broad.mit.edu	37	19	9524534	9524534	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:9524534T>G	ENST00000592904.1	-	5	3143	c.1067A>C	c.(1066-1068)gAt>gCt	p.D356A	ZNF266_ENST00000590306.1_Missense_Mutation_p.D356A|ZNF266_ENST00000361151.1_Missense_Mutation_p.D356A|ZNF266_ENST00000588933.1_Missense_Mutation_p.D356A|ZNF266_ENST00000361451.2_Missense_Mutation_p.D356A|ZNF266_ENST00000588221.1_Missense_Mutation_p.D356A|ZNF266_ENST00000592292.1_Missense_Mutation_p.D356A			Q14584	ZN266_HUMAN	zinc finger protein 266	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTCCCACAATCCTTACATTT	0.413000													18	46					0	0	0.006122	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077573	32077573	+	RNA	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:32077573C>T	ENST00000354689.6	+	0	188				RP11-1166P10.6_ENST00000566806.1_RNA																							TACGCAGACTCTGTGAAAGGC	0.517000													70	226					0	0	0.003610	0	0
ZNF233	353355	broad.mit.edu	37	19	44777511	44777511	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:44777511C>A	ENST00000391958.2	+	5	825	c.698C>A	c.(697-699)gCt>gAt	p.A233D	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.A215D|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AGAGAGAAAGCTTTTAGCCAC	0.368000													9	26					0.000274275	0.00053519	0.004482	1	0
KEL	3792	broad.mit.edu	37	7	142643301	142643301	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:142643301C>T	ENST00000355265.2	-	11	1781	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	436					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TACAGCACTTCGGGTGCTCGG	0.577000													8	11					0	0	0.003080	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603813	13603813	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:13603813T>A	ENST00000040738.5	-	10	4846	c.4711A>T	c.(4711-4713)Aat>Tat	p.N1571Y		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1571							DNA binding										AGAGGATTATTTCTGGAATGT	0.468000													5	19					0	0	0.000602	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951984	46951984	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr21:46951984G>A	ENST00000311124.4	-	3	420	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	SLC19A1_ENST00000380010.4_Silent_p.L90L|SLC19A1_ENST00000485649.2_Silent_p.L50L|SLC19A1_ENST00000567670.1_Silent_p.L90L	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	90					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GTGTAGCGCAGGTAGTCGGTG	0.672000													16	28					0	0	0.006122	0	0
LRP1B	53353	broad.mit.edu	37	2	141260622	141260622	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:141260622G>C	ENST00000389484.3	-	54	9543	c.8572C>G	c.(8572-8574)Ctt>Gtt	p.L2858V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2858	LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATTTAGAAGACACCGCCCA	0.388000										TSP Lung(27;0.18)			20	52					0	0	0.008871	0	0
PAIP1	10605	broad.mit.edu	37	5	43539127	43539127	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:43539127C>T	ENST00000306846.3	-	5	977	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	PAIP1_ENST00000338972.4_Missense_Mutation_p.E137K|PAIP1_ENST00000514514.1_Missense_Mutation_p.E170K|PAIP1_ENST00000436644.2_Missense_Mutation_p.E170K	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	249	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ACTTCATATTCAGTCCGACAT	0.333000													21	54					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179654776	179654776	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179654776G>T	ENST00000589042.1	-	12	2091	c.1867C>A	c.(1867-1869)Caa>Aaa	p.Q623K	TTN_ENST00000359218.5_Missense_Mutation_p.Q577K|TTN_ENST00000460472.2_Missense_Mutation_p.Q577K|TTN_ENST00000342992.6_Missense_Mutation_p.Q623K|TTN_ENST00000342175.6_Missense_Mutation_p.Q577K|TTN_ENST00000360870.5_Missense_Mutation_p.Q623K|TTN_ENST00000591111.1_Missense_Mutation_p.Q623K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	623							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)			ACTAAATCTTGTTCTTTGACT	0.348000													18	27					3.51602e-12	7.19041e-12	0.008871	1	0
PARP12	64761	broad.mit.edu	37	7	139727113	139727113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:139727113G>A	ENST00000263549.3	-	10	2464	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	531	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCTGTACTCGCTCAATCTTC	0.537000													5	42					0	0	0.000602	0	0
PSMD4	5710	broad.mit.edu	37	1	151237665	151237665	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:151237665C>G	ENST00000368884.3	+	5	473	c.393C>G	c.(391-393)ctC>ctG	p.L131L	PSMD4_ENST00000368881.4_Silent_p.L131L	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	131	VWFA.				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|DNA repair|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 transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CTAAACGCCTCAAGAAGGAGA	0.443000													3	47					0	0	0.004672	0	0
LYZL1	84569	broad.mit.edu	37	10	29599073	29599073	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:29599073C>T	ENST00000375500.3	+	4	528	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	111					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				ATGCAATTATCTGTGCCAGGA	0.433000													12	30					0	0	0.001855	0	0
ZC3H18	124245	broad.mit.edu	37	16	88664701	88664701	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:88664701C>T	ENST00000301011.5	+	4	1004	c.804C>T	c.(802-804)ctC>ctT	p.L268L	ZC3H18_ENST00000452588.2_Silent_p.L292L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	268	Pro-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCCGCCTCTCGGACCTCACC	0.537000													6	62					0	0	0.003080	0	0
ZIC4	84107	broad.mit.edu	37	3	147114240	147114240	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:147114240G>T	ENST00000383075.3	-	3	599	c.87C>A	c.(85-87)caC>caA	p.H29Q	ZIC4_ENST00000425731.3_Missense_Mutation_p.H67Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.H29Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.H29Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.H79Q|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	29						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGGGGCCATGGTGTCCAGAGC	0.697000													11	42					5.50884e-06	1.0874e-05	0.001368	1	0
GPR155	151556	broad.mit.edu	37	2	175346518	175346518	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:175346518C>G	ENST00000392552.2	-	2	405	c.167G>C	c.(166-168)gGc>gCc	p.G56A	GPR155_ENST00000392551.2_Missense_Mutation_p.G56A|GPR155_ENST00000295500.4_Missense_Mutation_p.G56A	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	56					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGCTATGTAGCCACAAAGGAC	0.418000													12	34					0	0	0.000978	0	0
PRDM14	63978	broad.mit.edu	37	8	70964454	70964454	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:70964454G>C	ENST00000276594.2	-	8	1775	c.1574C>G	c.(1573-1575)tCt>tGt	p.S525C		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGATGCAAAAGATTTACCACA	0.517000													19	121					0	0	0.001523	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61292481	61292481	+	Missense_Mutation	SNP	G	G	A	rs138628669		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:61292481G>A	ENST00000217159.1	+	5	1280	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.E359K	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	359					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CAGCCGTGGGGAGGCGAGCAA	0.617000													30	67					0	0	0.004878	0	0
SYNE1	23345	broad.mit.edu	37	6	152737810	152737810	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:152737810G>A	ENST00000367255.5	-	41	6363	c.5762C>T	c.(5761-5763)tCt>tTt	p.S1921F	SYNE1_ENST00000341594.5_Missense_Mutation_p.S1958F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1921F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1928F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1928F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1921					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)		GACGGCAGCAGATTCTAATGC	0.453000										HNSCC(10;0.0054)			21	46					0	0	0.008871	0	0
MUC17	140453	broad.mit.edu	37	7	100676630	100676630	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:100676630G>C	ENST00000306151.4	+	3	1997	c.1933G>C	c.(1933-1935)Gag>Cag	p.E645Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	645	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													115	469					0	0	0.003610	0	0
CFHR2	3080	broad.mit.edu	37	1	196920100	196920100	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:196920100G>A	ENST00000367415.4	+	3	486	c.372G>A	c.(370-372)gaG>gaA	p.E124E	CFHR2_ENST00000367421.3_Silent_p.E124E|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	124	Sushi 2.					extracellular region		p.E124E(1)		large_intestine(2)|ovary(1)|skin(3)	6						AAAACAATGAGAACAACATTT	0.393000													13	120					0	0	0.002450	0	0
KIRREL2	84063	broad.mit.edu	37	19	36355599	36355599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:36355599G>A	ENST00000360202.5	+	14	1973	c.1775G>A	c.(1774-1776)gGg>gAg	p.G592E	KIRREL2_ENST00000592409.1_Missense_Mutation_p.G557E|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G572E|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.G542E|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G592E	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	592					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGGAGAAAGGGACTCTGGAG	0.597000													26	16					0	0	0.002096	0	0
PFN4	375189	broad.mit.edu	37	2	24345335	24345335	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:24345335A>T	ENST00000313213.4	-	2	442	c.71T>A	c.(70-72)aTc>aAc	p.I24N	PFN4_ENST00000465360.1_Intron	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	24					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGATTTTGATGAGGGCTGC	0.428000													65	49					0	0	0.003610	0	0
MYBPC1	4604	broad.mit.edu	37	12	102036248	102036248	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:102036248G>A	ENST00000549145.1	+	10	781	c.681G>A	c.(679-681)ctG>ctA	p.L227L	MYBPC1_ENST00000441232.1_Silent_p.L214L|MYBPC1_ENST00000550270.1_Silent_p.L214L|MYBPC1_ENST00000361466.2_Silent_p.L239L|MYBPC1_ENST00000536007.1_Silent_p.L195L|MYBPC1_ENST00000392934.3_Silent_p.L201L|MYBPC1_ENST00000553190.1_Silent_p.L214L|MYBPC1_ENST00000360610.2_Silent_p.L214L|MYBPC1_ENST00000551300.1_Silent_p.L115L|MYBPC1_ENST00000545503.2_Silent_p.L214L|MYBPC1_ENST00000547405.1_Silent_p.L188L|MYBPC1_ENST00000541119.1_Silent_p.L202L|MYBPC1_ENST00000452455.2_Silent_p.L214L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361685.2_Silent_p.L239L|MYBPC1_ENST00000547509.1_Silent_p.L200L			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	214					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						GGGAGTTGCTGAAGAACGCGA	0.562000													15	43					0	0	0.004007	0	0
SFRP4	6424	broad.mit.edu	37	7	37956080	37956080	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:37956080G>A	ENST00000436072.2	-	1	437	c.60C>T	c.(58-60)cgC>cgT	p.R20R	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	20	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGGGCGCGCCGCGCACGCCCA	0.682000													19	32					0	0	0.006122	0	0
ATP2B3	492	broad.mit.edu	37	X	152845713	152845713	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:152845713C>G	ENST00000263519.4	+	20	3746	c.3620C>G	c.(3619-3621)tCc>tGc	p.S1207C	ATP2B3_ENST00000349466.2_Missense_Mutation_p.S1207C|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1207					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTTTCCTCCAGTCCCGGG	0.592000													3	75					0	0	0.004672	0	0
SFMBT1	51460	broad.mit.edu	37	3	52947576	52947576	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:52947576G>C	ENST00000394752.3	-	15	1920	c.1538C>G	c.(1537-1539)tCa>tGa	p.S513*	SFMBT1_ENST00000394750.1_Nonsense_Mutation_p.S513*|SFMBT1_ENST00000358080.2_Nonsense_Mutation_p.S513*|SFMBT1_ENST00000296295.6_Nonsense_Mutation_p.S513*	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	513					regulation of transcription, DNA-dependent	nucleus		p.S513*(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATATGGCCCTGAGAAGCAACG	0.403000													13	11					0	0	0.001855	0	0
ZNF442	79973	broad.mit.edu	37	19	12461237	12461237	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:12461237G>C	ENST00000242804.4	-	6	1744	c.1162C>G	c.(1162-1164)Cat>Gat	p.H388D	ZNF442_ENST00000438182.1_Missense_Mutation_p.H319D	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CTTGAGTGATGAGATAACGCT	0.428000													9	168					0	0	0.008291	0	0
GTF3C3	9330	broad.mit.edu	37	2	197641315	197641315	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:197641315C>T	ENST00000263956.3	-	11	1518	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	477						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCATAGCTTTCAGCAGCTCGC	0.438000													5	87					0	0	0.000602	0	0
SEL1L	6400	broad.mit.edu	37	14	81972553	81972553	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:81972553C>T	ENST00000336735.4	-	4	489	c.373G>A	c.(373-375)Gag>Aag	p.E125K	SEL1L_ENST00000555824.1_Missense_Mutation_p.E125K	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	125	Fibronectin type-II.|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGGCAGGGCTCCCCATGTGCT	0.438000													12	39					0	0	0.000978	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591223	56591223	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:56591223A>T	ENST00000338222.5	+	1	1198	c.917A>T	c.(916-918)cAg>cTg	p.Q306L		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	306						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GAAGGTACGCAGCCTTCCCGC	0.562000													11	3					0	0	0.000978	0	0
ABCC5	10057	broad.mit.edu	37	3	183707045	183707045	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:183707045T>C	ENST00000334444.6	-	3	496	c.256A>G	c.(256-258)Agt>Ggt	p.S86G	ABCC5_ENST00000427120.2_Missense_Mutation_p.S86G|ABCC5_ENST00000265586.6_Missense_Mutation_p.S86G|ABCC5_ENST00000392579.2_Missense_Mutation_p.S86G|ABCC5_ENST00000382494.2_Missense_Mutation_p.S86G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	86						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCAGAGCACTCAAGCCATGA	0.478000													28	17					0	0	0.007291	0	0
CCDC180	100499483	broad.mit.edu	37	9	100136864	100136864	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:100136864G>A	ENST00000375202.2	+	49	6124	c.4772G>A	c.(4771-4773)cGa>cAa	p.R1591Q	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1591Q|CCDC180_ENST00000357054.1_Missense_Mutation_p.R1536Q					coiled-coil domain containing 180																		ATGCTCATACGAAGGAAACTC	0.507000													4	22					0	0	0.000248	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43480174	43480174	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:43480174G>A	ENST00000532038.1	-	8	1118	c.983C>T	c.(982-984)tCc>tTc	p.S328F	ARHGAP27_ENST00000428638.1_Missense_Mutation_p.S550F|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.S209F|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.S182F|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.S523F|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.S209F|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.S528F			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	550	WW 2.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GGAAAACTTGGAAGGCTGCCT	0.572000													19	38					0	0	0.007413	0	0
NBEAL2	23218	broad.mit.edu	37	3	47033992	47033992	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:47033992G>A	ENST00000450053.3	+	10	1239	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	NBEAL2_ENST00000292309.5_Missense_Mutation_p.E354K|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	354							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)		GGCGCCCCCCGAGGGGGACAG	0.637000													5	4					0	0	0.000602	0	0
POLR2A	5430	broad.mit.edu	37	17	7399540	7399540	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7399540G>C	ENST00000322644.6	+	3	637	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	POLR2A_ENST00000572844.1_Missense_Mutation_p.E80Q	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	80					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|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 binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAACATGACAGAGTGTCCTGG	0.537000													6	48					0	0	0.001168	0	0
FMOD	2331	broad.mit.edu	37	1	203316510	203316510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:203316510C>T	ENST00000354955.4	-	2	1352	c.889G>A	c.(889-891)Gag>Aag	p.E297K	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	297					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			AGGTCTAGCTCAAGGAGGCTG	0.557000													114	105					0	0	0.003610	0	0
PER3	8863	broad.mit.edu	37	1	7896001	7896001	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:7896001G>C	ENST00000377532.3	+	19	3618	c.3394G>C	c.(3394-3396)Gag>Cag	p.E1132Q	PER3_ENST00000361923.2_Missense_Mutation_p.E1123Q			P56645	PER3_HUMAN	period circadian clock 3	1123	CRY binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTACCTGAGAGGTAAGA	0.413000													4	39					0	0	0.000248	0	0
FCRLA	84824	broad.mit.edu	37	1	161681748	161681748	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:161681748G>C	ENST00000367959.2	+	5	835	c.593G>C	c.(592-594)aGa>aCa	p.R198T	FCRLA_ENST00000309691.6_Missense_Mutation_p.R86T|FCRLA_ENST00000367957.2_Missense_Mutation_p.R52T|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000294796.4_Missense_Mutation_p.R41T|FCRLA_ENST00000546024.1_Missense_Mutation_p.R103T|FCRLA_ENST00000540926.1_Missense_Mutation_p.R181T|FCRLA_ENST00000540521.1_Missense_Mutation_p.R58T|FCRLA_ENST00000236938.6_Missense_Mutation_p.R192T|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.R181T	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	175	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCAATTCTCAGAGCTGTACCC	0.527000													5	443					0	0	0.000602	0	0
MOS	4342	broad.mit.edu	37	8	57025647	57025647	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:57025647G>A	ENST00000311923.1	-	1	894	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	299	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCAGCGGAGAGGGACGGGCGC	0.687000													9	31					0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113364752	113364752	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:113364752C>A	ENST00000297405.5	-	39	6392	c.6148G>T	c.(6148-6150)Gat>Tat	p.D2050Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.D1946Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1980Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D2010Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2050	Sushi 11.					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						GGACAGGAATCCAAACCAATT	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	70					2.17888e-05	4.27613e-05	0.006214	1	0
NAP1L3	4675	broad.mit.edu	37	X	92927456	92927456	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:92927456C>G	ENST00000373079.3	-	1	1111	c.848G>C	c.(847-849)aGa>aCa	p.R283T	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	283					nucleosome assembly	chromatin assembly complex		p.R283I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTCAGGAACTCTTTTATGAGT	0.453000													3	87					0	0	0.004672	0	0
OBSCN	84033	broad.mit.edu	37	1	228556503	228556503	+	Silent	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:228556503A>G	ENST00000570156.2	+	100	22793	c.22719A>G	c.(22717-22719)ccA>ccG	p.P7573P	OBSCN_ENST00000422127.1_Silent_p.P6616P|OBSCN_ENST00000366707.4_Silent_p.P4250P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6616	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACATCACCCCAGCAGAGCTGC	0.567000													158	98					0	0	0.003610	0	0
OR2L3	391192	broad.mit.edu	37	1	248224496	248224496	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:248224496G>T	ENST00000359959.3	+	1	513	c.513G>T	c.(511-513)agG>agT	p.R171S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCCAATCCAGGGCCATCAATC	0.473000													32	219					1.74807e-11	3.55354e-11	0.002096	1	0
TGM6	343641	broad.mit.edu	37	20	2375175	2375175	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:2375175G>A	ENST00000202625.2	+	2	146	c.85G>A	c.(85-87)Gag>Aag	p.E29K	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.E29K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	29					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCCCTGCCCTGAGCTGGTGGT	0.627000													4	30					0	0	0.000248	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203557	140203557	+	Missense_Mutation	SNP	C	C	T	rs140039635		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:140203557C>T	ENST00000529859.1	+	1	2197	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	PCDHA5_ENST00000529619.1_Missense_Mutation_p.R733W|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R733W|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTGCACACGGGGCAAGCC	0.662000													15	33					0	0	0.002450	0	0
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7578413C>A	ENST00000420246.2	-	5	649	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L	TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662000		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)			31	22					9.65021e-13	1.99145e-12	0.002096	1	0
TMCO4	255104	broad.mit.edu	37	1	20107215	20107215	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:20107215G>C	ENST00000294543.6	-	4	278	c.37C>G	c.(37-39)Cag>Gag	p.Q13E	TMCO4_ENST00000375127.1_Missense_Mutation_p.Q13E|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q13E	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	13						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGAGGCTGCTGAGGCAGCCTC	0.607000													7	29					0	0	0.001984	0	0
RNF208	727800	broad.mit.edu	37	9	140115259	140115259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:140115259C>T	ENST00000392827.1	-	2	574	c.406G>A	c.(406-408)Gcg>Acg	p.A136T	RNF208_ENST00000391553.1_Missense_Mutation_p.A136T			Q9H0X6	RN208_HUMAN	ring finger protein 208	136							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCGCCTGCCGCCGCCGAAGAA	0.672000													23	11					0	0	0.003954	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789449	140789449	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:140789449G>A	ENST00000520790.1	+	1	1680	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCACCGCGGGTGCTGT	0.662000													6	22					0	0	0.003080	0	0
KDM6B	23135	broad.mit.edu	37	17	7752018	7752018	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7752018C>G	ENST00000254846.5	+	11	2801	c.2412C>G	c.(2410-2412)ctC>ctG	p.L804L	KDM6B_ENST00000448097.2_Silent_p.L804L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	804	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L804L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCAGCCTGCTCAAATCCTTGG	0.642000													6	52					0	0	0.001168	0	0
DDX24	57062	broad.mit.edu	37	14	94521392	94521392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:94521392C>T	ENST00000330836.5	-	7	2259	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	DDX24_ENST00000555054.1_Missense_Mutation_p.E667K|DDX24_ENST00000544005.1_Missense_Mutation_p.E460K	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	710	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)		GGGATATCCTCATCTTTCTTG	0.463000													32	149					0	0	0.002445	0	0
ZNF638	27332	broad.mit.edu	37	2	71653623	71653623	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:71653623G>T	ENST00000409544.1	+	24	5254	c.4624G>T	c.(4624-4626)Gtt>Ttt	p.V1542F	ZNF638_ENST00000409407.1_Missense_Mutation_p.V482F|ZNF638_ENST00000355812.3_Missense_Mutation_p.L1133F|ZNF638_ENST00000264447.4_Missense_Mutation_p.V1542F	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1542					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGATGAATTTGTTACTGTGGA	0.348000													18	20					1.56452e-12	3.20916e-12	0.007413	1	0
RELT	84957	broad.mit.edu	37	11	73106303	73106303	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:73106303G>A	ENST00000064780.2	+	10	1479	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L	RELT_ENST00000393580.2_Silent_p.L406L	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	406						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CAAAGTGGCTGAAGCCCCCAG	0.642000													5	105					0	0	0.000602	0	0
MYO5A	4644	broad.mit.edu	37	15	52656782	52656782	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr15:52656782T>A	ENST00000399231.3	-	24	3521	c.3278A>T	c.(3277-3279)gAt>gTt	p.D1093V	MYO5A_ENST00000358212.6_Missense_Mutation_p.D1093V|MYO5A_ENST00000356338.6_Missense_Mutation_p.D1093V|MYO5A_ENST00000399233.2_Missense_Mutation_p.D1093V|MYO5A_ENST00000553916.1_Missense_Mutation_p.D1093V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1093					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTGAGGTCATCATATCTTTC	0.338000													25	54					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179395647	179395647	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179395647G>T	ENST00000589042.1	-	358	105919	c.105695C>A	c.(105694-105696)cCa>cAa	p.P35232Q	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26292Q|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26167Q|TTN_ENST00000342992.6_Missense_Mutation_p.P32664Q|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P26359Q|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P33591Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33591							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)			TTTGACTCTTGGTGGTGATGT	0.478000													13	141					4.36969e-10	8.77805e-10	0.001855	1	0
NDST4	64579	broad.mit.edu	37	4	115769459	115769459	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:115769459G>C	ENST00000264363.2	-	9	2530	c.1852C>G	c.(1852-1854)Cct>Gct	p.P618A		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	618	Heparan sulfate N-sulfotransferase 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)		ATGATTGAAGGATGCATAAGA	0.308000													4	60					0	0	0.000602	0	0
GPC4	2239	broad.mit.edu	37	X	132548982	132548982	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:132548982G>A	ENST00000370828.3	-	1	536	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	4					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CGGGCAAGCCGAACCGTGCCA	0.701000													7	20					0	0	0.001984	0	0
UTP20	27340	broad.mit.edu	37	12	101779782	101779782	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:101779782A>G	ENST00000261637.4	+	62	8413	c.8239A>G	c.(8239-8241)Atg>Gtg	p.M2747V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2747	Nuclear localization signal.|Nucleolar localization signal.				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						CAAGAAAAAAATGAAGAAACA	0.308000													23	51					0	0	0.001882	0	0
CLTCL1	8218	broad.mit.edu	37	22	19183840	19183840	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:19183840G>A	ENST00000263200.10	-	26	4200	c.4128C>T	c.(4126-4128)ctC>ctT	p.L1376L	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Silent_p.L1376L|CLTCL1_ENST00000427926.1_Silent_p.L1376L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1376	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCATCATGGTGAGCACAGCAT	0.567000			T	?	ALCL								8	72					0	0	0.004482	0	0
DNAH8	1769	broad.mit.edu	37	6	38821072	38821072	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:38821072C>G	ENST00000359357.3	+	39	5285	c.5031C>G	c.(5029-5031)atC>atG	p.I1677M	DNAH8_ENST00000449981.2_Missense_Mutation_p.I1894M|DNAH8_ENST00000441566.1_Missense_Mutation_p.I1677M					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTATCAAATCAGTGATTCAG	0.368000													19	32					0	0	0.008871	0	0
CRB1	23418	broad.mit.edu	37	1	197298069	197298069	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:197298069G>A	ENST00000367400.3	+	2	723	c.588G>A	c.(586-588)aaG>aaA	p.K196K	CRB1_ENST00000535699.1_Silent_p.K127K|CRB1_ENST00000538660.1_Silent_p.K196K|CRB1_ENST00000367399.2_Silent_p.K196K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	196	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATCCCTGCAAGAACGAGGCTA	0.448000													4	68					0	0	0.000248	0	0
SYMPK	8189	broad.mit.edu	37	19	46328447	46328447	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:46328447C>G	ENST00000245934.7	-	18	2716	c.2472G>C	c.(2470-2472)ctG>ctC	p.L824L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	824					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.L824L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAATGACCCTCAGCACCGTCC	0.647000													5	66					0	0	0.001984	0	0
ANO4	121601	broad.mit.edu	37	12	101510564	101510564	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:101510564T>C	ENST00000392979.3	+	24	2814	c.2453T>C	c.(2452-2454)cTt>cCt	p.L818P	ANO4_ENST00000299222.9_Missense_Mutation_p.L373P|ANO4_ENST00000550015.1_Missense_Mutation_p.L373P|ANO4_ENST00000392977.3_Missense_Mutation_p.L853P	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	853						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGGACTCCTCTTAAGTACTGC	0.542000										HNSCC(74;0.22)			4	81					0	0	0.000602	0	0
CD320	51293	broad.mit.edu	37	19	8367860	8367860	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:8367860G>A	ENST00000301458.5	-	4	571	c.507C>T	c.(505-507)acC>acT	p.T169T	CD320_ENST00000537716.2_Silent_p.T127T	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	169					regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						GGATCTCATTGGTTCCTGCAA	0.607000													4	15					0	0	0.000602	0	0
FAT1	2195	broad.mit.edu	37	4	187630110	187630110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:187630110G>C	ENST00000441802.2	-	2	1081	c.872C>G	c.(871-873)tCt>tGt	p.S291C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	291					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATGCTTAAAGATGCTATGTC	0.488000										HNSCC(5;0.00058)			20	173					0	0	0.008871	0	0
ABCA8	10351	broad.mit.edu	37	17	66890418	66890418	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:66890418T>C	ENST00000269080.2	-	21	2949	c.2812A>G	c.(2812-2814)Aga>Gga	p.R938G	ABCA8_ENST00000430352.2_Missense_Mutation_p.R978G|ABCA8_ENST00000586539.1_Missense_Mutation_p.R978G	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	938						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAATTCAATCTTTTGGCATTG	0.313000													7	14					0	0	0.003080	0	0
CLASRP	11129	broad.mit.edu	37	19	45563652	45563652	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:45563652T>A	ENST00000544944.2	+	8	1408	c.716T>A	c.(715-717)cTc>cAc	p.L239H	CLASRP_ENST00000391953.4_Missense_Mutation_p.L177H|CLASRP_ENST00000221455.3_Missense_Mutation_p.L239H			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	239					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TATAGGATGCTCCGGAAAGAC	0.572000													8	28					0	0	0.004482	0	0
ASMTL	8623	broad.mit.edu	37	X	1554652	1554652	+	Splice_Site	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:1554652C>T	ENST00000534940.1	-	4	325		c.e4-1		ASMTL_ENST00000381317.3_Splice_Site|ASMTL_ENST00000416733.2_Intron|ASMTL_ENST00000381333.4_Splice_Site	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like						melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				CCCCGACTGTCTGTGAGAGGA	0.587000													11	69					0	0	0.000978	0	0
DDN	23109	broad.mit.edu	37	12	49392252	49392252	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:49392252C>G	ENST00000421952.2	-	2	428	c.407G>C	c.(406-408)cGa>cCa	p.R136P	RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	136						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GGGGCTCCGTCGGGCCCCACC	0.741000													6	13					0	0	0.004482	0	0
NEURL4	84461	broad.mit.edu	37	17	7230539	7230539	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7230539C>T	ENST00000399464.2	-	3	753	c.738G>A	c.(736-738)gtG>gtA	p.V246V	NEURL4_ENST00000315614.7_Silent_p.V246V|NEURL4_ENST00000570460.1_Intron	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGCTGGGGACACCATGAAGG	0.627000													8	16					0	0	0.003080	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007955	32007955	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:32007955C>T	ENST00000418967.2	+	7	1070	c.912C>T	c.(910-912)gcC>gcT	p.A304A	CYP21A2_ENST00000435122.2_Silent_p.A274A	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	303			V -> M (in hyperandrogenism; due to 21- hydroxylase deficiency; non-classic type; residual activity of 46% for conversion of 17-hydroxyprogesterone and 26% for conversion of progesterone compared with the normal enzyme).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						TCTCCTGGGCCGTGGTTTTTT	0.617000													30	111					0	0	0.008361	0	0
C9orf96	169436	broad.mit.edu	37	9	136253248	136253248	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:136253248C>G	ENST00000371957.3	+	5	419	c.312C>G	c.(310-312)ctC>ctG	p.L104L	C9orf96_ENST00000426926.2_Silent_p.L104L|C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	104	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTGTACCTCTGCCTGGTGA	0.572000													12	55					0	0	0.002450	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52115506	52115506	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:52115506G>A	ENST00000222107.4	-	9	1772	c.1634C>T	c.(1633-1635)tCg>tTg	p.S545L	SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S545L|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S545L|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S545L|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S545L			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	545					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGATCTCCGAGTACTCCGT	0.537000													16	80					0	0	0.004007	0	0
ILF2	3608	broad.mit.edu	37	1	153636573	153636573	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:153636573C>G	ENST00000361891.4	-	10	815	c.690G>C	c.(688-690)ttG>ttC	p.L230F	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	230	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACGAATCCTCAAGTCCTTCA	0.398000													6	33					0	0	0.001984	0	0
TPR	7175	broad.mit.edu	37	1	186312565	186312565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:186312565C>T	ENST00000367478.3	-	27	3939	c.3643G>A	c.(3643-3645)Gag>Aag	p.E1215K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1215					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAGCCACCTCAAACCTAGTT	0.353000			T	NTRK1	papillary thyroid								20	99					0	0	0.001523	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853278	70853278	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:70853278C>G	ENST00000333538.5	+	3	1114	c.480C>G	c.(478-480)ttC>ttG	p.F160L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	160	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TATTCATCTTCGTGAACGAGG	0.527000													6	67					0	0	0.001168	0	0
BYSL	705	broad.mit.edu	37	6	41900357	41900357	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:41900357C>T	ENST00000230340.4	+	7	1602	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	409					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCTGCAGCCCCATCCACAGC	0.587000													12	64					0	0	0.001368	0	0
SYT1	6857	broad.mit.edu	37	12	79689943	79689943	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:79689943A>T	ENST00000261205.4	+	7	1226	c.569A>T	c.(568-570)aAg>aTg	p.K190M	SYT1_ENST00000457153.2_Missense_Mutation_p.K187M|SYT1_ENST00000393240.3_Missense_Mutation_p.K190M|SYT1_ENST00000552744.1_Missense_Mutation_p.K190M	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	190	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTACCTGATAAGAAGAAGAAA	0.418000													20	42					0	0	0.002780	0	0
NDUFB4	4710	broad.mit.edu	37	3	120315376	120315376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:120315376G>A	ENST00000485064.1	+	1	202	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	NDUFB4_ENST00000492739.1_Missense_Mutation_p.R57Q|NDUFB4_ENST00000184266.2_Missense_Mutation_p.R57Q	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	57					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	CCCAACCGCCGAGGGCTCATC	0.632000													4	17					0	0	0.000248	0	0
ADCK2	90956	broad.mit.edu	37	7	140373236	140373236	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:140373236G>T	ENST00000072869.4	+	1	284	c.106G>T	c.(106-108)Gat>Tat	p.D36Y	ADCK2_ENST00000476491.1_Missense_Mutation_p.D36Y	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	36						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GTGCCCTCGCGATGCCAGGCT	0.677000													6	12					0.00116845	0.00226054	0.001168	1	0
SVEP1	79987	broad.mit.edu	37	9	113169482	113169482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:113169482C>G	ENST00000401783.2	-	38	8734	c.8398G>C	c.(8398-8400)Gag>Cag	p.E2800Q	SVEP1_ENST00000297826.5_Missense_Mutation_p.E726Q|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2777Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2800	Sushi 23.				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						GGGTCACACTCATAGTACAAC	0.483000													76	52					0	0	0.003610	0	0
FKBPL	63943	broad.mit.edu	37	6	32097359	32097359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:32097359C>T	ENST00000375156.3	-	2	469	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	67					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										ACCAGTTTTTCAGCTCCTTGA	0.512000													11	66					0	0	0.008291	0	0
YARS2	51067	broad.mit.edu	37	12	32908286	32908286	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:32908286C>A	ENST00000324868.8	-	1	550	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	175					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TGGTACCAGGCCGAGTTGTCC	0.657000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	22					0.000566183	0.00110163	0.004990	1	0
TCEAL4	79921	broad.mit.edu	37	X	102842017	102842017	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:102842017C>T	ENST00000472745.1	+	3	966	c.414C>T	c.(412-414)ctC>ctT	p.L138L	TCEAL4_ENST00000372629.4_Silent_p.L281L|TCEAL4_ENST00000494801.1_Silent_p.L138L|TCEAL4_ENST00000468024.1_Silent_p.L138L|TCEAL4_ENST00000415568.2_Silent_p.L138L|TCEAL4_ENST00000472484.1_Silent_p.L138L			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						CTCATTACCTCAAGGAGTATA	0.438000													11	117					0	0	0.001368	0	0
OR10C1	442194	broad.mit.edu	37	6	29407891	29407891	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:29407891C>T	ENST00000444197.2	+	1	809	c.99C>T	c.(97-99)atC>atT	p.I33I	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCTCACTATCTACCTGCTGA	0.557000													31	59					0	0	0.008361	0	0
SPTA1	6708	broad.mit.edu	37	1	158641861	158641861	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:158641861C>G	ENST00000368148.3	-	11	1656	c.1476G>C	c.(1474-1476)atG>atC	p.M492I	SPTA1_ENST00000368147.3_Missense_Mutation_p.M492I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	492					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)					CTTGTCTACTCATCCAACTGT	0.498000													27	116					0	0	0.002096	0	0
PI4KA	5297	broad.mit.edu	37	22	21157491	21157491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:21157491G>A	ENST00000255882.6	-	13	1665	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	PI4KA_ENST00000572273.1_Nonsense_Mutation_p.Q469*	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	469					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTGTGGTACTGACTGTGGTAC	0.547000													14	158					0	0	0.001855	0	0
ARR3	407	broad.mit.edu	37	X	69489243	69489243	+	Splice_Site	SNP	A	A	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:69489243A>C	ENST00000374495.3	+	2	106	c.8_splice	c.e2+1	p.K3_splice	ARR3_ENST00000307959.8_Splice_Site_p.K3_splice			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	3					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AACATGTCCAAGTAAGAATTC	0.423000													11	5					0	0	0.000978	0	0
MOS	4342	broad.mit.edu	37	8	57025648	57025648	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:57025648G>A	ENST00000311923.1	-	1	893	c.894C>T	c.(892-894)tcC>tcT	p.S298S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	298	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CAGCGGAGAGGGACGGGCGCA	0.682000													9	33					0	0	0.004482	0	0
PADI4	23569	broad.mit.edu	37	1	17662722	17662722	+	Splice_Site	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:17662722G>A	ENST00000375448.4	+	4	434		c.e4+1		AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV						chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAAAGATCAGGTACCACTCAC	0.547000											OREG0013149	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	26					0	0	0.003080	0	0
PGAM4	441531	broad.mit.edu	37	X	77224532	77224532	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:77224532C>G	ENST00000458128.1	-	1	603	c.604G>C	c.(604-606)Gaa>Caa	p.E202Q	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	202					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						ATAGCCTCTTCAGAGAGACCC	0.512000													4	179					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179593094	179593094	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179593094T>G	ENST00000589042.1	-	67	19681	c.19457A>C	c.(19456-19458)aAa>aCa	p.K6486T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K5242T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K6169T|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6169	Ig-like 46.						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)			TTTGGTTAATTTTTTGGTGAA	0.358000													6	13					0	0	0.001984	0	0
PLCE1	51196	broad.mit.edu	37	10	95892130	95892130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:95892130C>T	ENST00000260766.3	+	3	2040	c.1406C>T	c.(1405-1407)tCt>tTt	p.S469F	PLCE1_ENST00000371385.3_Missense_Mutation_p.S161F|PLCE1_ENST00000371375.1_Missense_Mutation_p.S161F|PLCE1_ENST00000371380.2_Missense_Mutation_p.S469F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	469			S -> T (in dbSNP:rs17508082).		activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCACCGGTTCTCTCCTAGAA	0.478000													7	94					0	0	0.001984	0	0
PDE10A	10846	broad.mit.edu	37	6	165792780	165792780	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:165792780T>A	ENST00000366882.1	-	19	2012	c.1858A>T	c.(1858-1860)Atc>Ttc	p.I620F	PDE10A_ENST00000539869.2_Missense_Mutation_p.I630F|PDE10A_ENST00000354448.4_Missense_Mutation_p.I620F			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	620					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTGGCAATGATGGCTTTGCGG	0.413000													7	41					0	0	0.003080	0	0
MEIS1	4211	broad.mit.edu	37	2	66775128	66775128	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:66775128C>T	ENST00000488550.1	+	9	1241	c.942C>T	c.(940-942)ctC>ctT	p.L314L	MEIS1_ENST00000272369.9_Silent_p.L314L|MEIS1_ENST00000398506.2_Silent_p.L312L|MEIS1_ENST00000407092.2_Silent_p.L314L|MEIS1_ENST00000495021.2_Silent_p.L249L|MEIS1_ENST00000560281.2_Silent_p.L314L|MEIS1_ENST00000444274.2_3'UTR|MEIS1_ENST00000409517.1_3'UTR			O00470	MEIS1_HUMAN	Meis homeobox 1	314							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ACACGGGACTCACCATCCTTC	0.423000													13	31					0	0	0.001855	0	0
NRG2	9542	broad.mit.edu	37	5	139231379	139231379	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:139231379T>A	ENST00000541337.1	-	7	1613	c.1384A>T	c.(1384-1386)Agc>Tgc	p.S462C	NRG2_ENST00000358522.3_Missense_Mutation_p.S530C|NRG2_ENST00000545385.1_Missense_Mutation_p.S530C|NRG2_ENST00000289409.4_Missense_Mutation_p.S522C|NRG2_ENST00000361474.1_Missense_Mutation_p.S528C|NRG2_ENST00000394770.1_3'UTR|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000340391.3_Missense_Mutation_p.S325C|NRG2_ENST00000289422.7_Missense_Mutation_p.S536C	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	528					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGTCAGGCTCTCAGAACGT	0.632000													7	32					0	0	0.004482	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87258202	87258202	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:87258202G>C	ENST00000338056.3	+	1	474	c.63G>C	c.(61-63)aaG>aaC	p.K21N	ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.K21N|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.K21N	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	21										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GAGGCGGCAAGAAAAGCCTGA	0.716000													4	11					0	0	0.000248	0	0
ANKRD37	353322	broad.mit.edu	37	4	186318369	186318369	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:186318369G>A	ENST00000335174.4	+	2	533	c.93G>A	c.(91-93)aaG>aaA	p.K31K	ANKRD37_ENST00000507479.1_3'UTR	NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	31						cytoplasm|nucleus				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		ATCCCTGCAAGCAGTCGCCTG	0.592000													14	73					0	0	0.001855	0	0
TDRD3	81550	broad.mit.edu	37	13	61068665	61068665	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:61068665T>G	ENST00000196169.3	+	8	1323	c.535T>G	c.(535-537)Tca>Gca	p.S179A	TDRD3_ENST00000377894.2_Missense_Mutation_p.S179A|TDRD3_ENST00000535286.1_Missense_Mutation_p.S272A|TDRD3_ENST00000377881.2_Missense_Mutation_p.S179A	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	179					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GAAAGAAAAGTCAACCAAATC	0.363000													6	36					0	0	0.001168	0	0
CD80	941	broad.mit.edu	37	3	119248769	119248769	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:119248769A>T	ENST00000264246.3	-	5	1078	c.716T>A	c.(715-717)tTt>tAt	p.F239Y	CD80_ENST00000478182.1_Missense_Mutation_p.F239Y|CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Intron	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	239					interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	GTTATCAGGAAAATGCTCTTG	0.408000													5	61					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179669350	179669350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179669350G>A	ENST00000589042.1	-	2	244	c.20C>T	c.(19-21)aCg>aTg	p.T7M	TTN_ENST00000359218.5_Missense_Mutation_p.T7M|TTN_ENST00000460472.2_Missense_Mutation_p.T7M|TTN_ENST00000342992.6_Missense_Mutation_p.T7M|TTN_ENST00000342175.6_Missense_Mutation_p.T7M|TTN_ENST00000360870.5_Missense_Mutation_p.T7M|TTN_ENST00000591111.1_Missense_Mutation_p.T7M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7	Ig-like 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T7M(5)		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)			CTGCGTAAACGTCGGTGCTTG	0.453000													14	34					0	0	0.003163	0	0
APOB	338	broad.mit.edu	37	2	21224885	21224885	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:21224885G>A	ENST00000233242.1	-	29	13536	c.13409C>T	c.(13408-13410)tCt>tTt	p.S4470F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4470					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGCAGTGGCAGAAAGCTCTGC	0.383000													12	71					0	0	0.001368	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433131	140433131	+	Silent	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:140433131C>A	ENST00000306549.3	+	1	2153	c.2076C>A	c.(2074-2076)gtC>gtA	p.V692V		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		692					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATATTTGGTCATTTCTCTGG	0.388000													22	82					1.96895e-08	3.93212e-08	0.002780	1	0
FAM213A	84293	broad.mit.edu	37	10	82187156	82187156	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:82187156C>G	ENST00000372181.1	+	4	950	c.480C>G	c.(478-480)taC>taG	p.Y160*	FAM213A_ENST00000372185.1_Nonsense_Mutation_p.Y149*|FAM213A_ENST00000372187.5_Nonsense_Mutation_p.Y160*|FAM213A_ENST00000372188.1_Nonsense_Mutation_p.Y160*	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	160						extracellular region											GAGTGTGGTACAACTTCTTCC	0.488000													4	61					0	0	0.000602	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746180	140746180	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:140746180G>A	ENST00000518069.1	+	1	2283	c.2283G>A	c.(2281-2283)gcG>gcA	p.A761A	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCACCGCGGACTCGAGGA	0.592000													13	136					0	0	0.001368	0	0
FRK	2444	broad.mit.edu	37	6	116265528	116265528	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:116265528G>A	ENST00000606080.1	-	6	1465	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	FRK_ENST00000538210.1_Missense_Mutation_p.S198F	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	340	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GGCCATTCCAGAGGCAACCTG	0.418000													10	40					0	0	0.008291	0	0
GRM2	2912	broad.mit.edu	37	3	51749374	51749374	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:51749374G>C	ENST00000395052.3	+	4	1819	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	529					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCAGCCCTATGAGTACCGATT	0.612000													6	15					0	0	0.001168	0	0
MLH1	4292	broad.mit.edu	37	3	37048548	37048548	+	Silent	SNP	G	G	A	rs63750638		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:37048548G>A	ENST00000231790.2	+	5	663	c.447G>A	c.(445-447)caG>caA	p.Q149Q	MLH1_ENST00000435176.1_Silent_p.Q51Q|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000455445.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	149					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AAGGGACCCAGATCACGGTAA	0.343000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				22	15					0	0	0.002780	0	0
LIN9	286826	broad.mit.edu	37	1	226474137	226474137	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:226474137C>G	ENST00000328205.5	-	6	1014	c.469G>C	c.(469-471)Gac>Cac	p.D157H	LIN9_ENST00000366801.1_Missense_Mutation_p.D106H|LIN9_ENST00000481685.1_Missense_Mutation_p.D122H	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	141	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ACACAGAAGTCATTATCACCT	0.318000													24	63					0	0	0.003954	0	0
ZFAT	57623	broad.mit.edu	37	8	135612760	135612760	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:135612760C>T	ENST00000520727.1	-	8	2657	c.2358G>A	c.(2356-2358)ctG>ctA	p.L786L	ZFAT_ENST00000520214.1_Silent_p.L786L|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520356.1_Silent_p.L786L|ZFAT_ENST00000377838.3_Silent_p.L798L|ZFAT_ENST00000429442.2_Silent_p.L786L|ZFAT_ENST00000523399.1_Silent_p.L736L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGGGACACTTCAGCAAGATGT	0.438000													26	109					0	0	0.007291	0	0
TMEM57	55219	broad.mit.edu	37	1	25810760	25810760	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:25810760G>A	ENST00000374343.4	+	7	1487	c.1308G>A	c.(1306-1308)caG>caA	p.Q436Q	TMEM57_ENST00000399763.3_Silent_p.Q78Q|TMEM57_ENST00000399766.3_Silent_p.Q209Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	436						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGCTGCAGAACAAGTACG	0.572000													15	40					0	0	0.004990	0	0
CDH9	1007	broad.mit.edu	37	5	26881405	26881405	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:26881405G>A	ENST00000231021.4	-	12	2382	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	737					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATAGGCATACGTTGCCAGCGA	0.423000													29	72					0	0	0.006320	0	0
AGTR1	185	broad.mit.edu	37	3	148459339	148459339	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:148459339G>A	ENST00000542281.1	+	4	963	c.517G>A	c.(517-519)Gag>Aag	p.E173K	AGTR1_ENST00000418473.2_Missense_Mutation_p.E173K|AGTR1_ENST00000402260.1_Missense_Mutation_p.E173K|AGTR1_ENST00000461609.1_Missense_Mutation_p.E173K|AGTR1_ENST00000497524.1_Missense_Mutation_p.E173K|AGTR1_ENST00000474935.1_Missense_Mutation_p.E173K|AGTR1_ENST00000475347.1_Missense_Mutation_p.E173K|AGTR1_ENST00000349243.3_Missense_Mutation_p.E173K|AGTR1_ENST00000404754.2_Missense_Mutation_p.E173K	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	173					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATTTTTCATTGAGAACACCAA	0.443000													25	85					0	0	0.003954	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414936	121414936	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:121414936T>C	ENST00000393667.3	-	13	4544	c.4434A>G	c.(4432-4434)gaA>gaG	p.E1478E	GOLGB1_ENST00000340645.5_Silent_p.E1473E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1473					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCTACTTTCTTCTCCAATCT	0.393000													42	223					0	0	0.008740	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713698	30713698	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:30713698C>T	ENST00000295754.5	+	4	1405	c.1023C>T	c.(1021-1023)gtC>gtT	p.V341V	TGFBR2_ENST00000359013.4_Silent_p.V366V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	341	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CGCGGCATGTCATCAGCTGGG	0.617000													52	40					0	0	0.003610	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113223541	113223541	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:113223541G>A	ENST00000261965.3	-	2	295	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.R37W	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	37					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CCAATCACCCGCACAGCATAC	0.433000													15	42					0	0	0.007413	0	0
ATG2B	55102	broad.mit.edu	37	14	96757161	96757161	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:96757161T>C	ENST00000359933.4	-	39	6584	c.5691A>G	c.(5689-5691)ctA>ctG	p.L1897L	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1897								p.L1897L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTAATTGTACTAGTGAATGCA	0.348000													26	66					0	0	0.006320	0	0
XIRP2	129446	broad.mit.edu	37	2	168102261	168102261	+	Silent	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:168102261T>G	ENST00000409195.1	+	9	4448	c.4359T>G	c.(4357-4359)acT>acG	p.T1453T	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T1231T|XIRP2_ENST00000295237.9_Silent_p.T1453T|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1278					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						AAACATCTACTTGGCTATTTG	0.348000													10	15					0	0	0.006214	0	0
DEFA4	1669	broad.mit.edu	37	8	6794410	6794410	+	Missense_Mutation	SNP	G	G	C	rs61749084	byFrequency	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:6794410G>C	ENST00000297435.2	-	2	136	c.12C>G	c.(10-12)atC>atG	p.I4M		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	4					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.I4I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CGAGGAGGGCGATAATCCTCA	0.622000													4	9					0	0	0.000248	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119533	17119533	+	RNA	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:17119533G>A	ENST00000426585.1	+	0	345																											AATTTTCACTGACAGCAAACT	0.343000													17	58					0	0	0.008871	0	0
DNAH9	1770	broad.mit.edu	37	17	11607549	11607549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:11607549G>A	ENST00000262442.3	+	25	5249	c.5181G>A	c.(5179-5181)tgG>tgA	p.W1727*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.W1727*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1727	Stem (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)		AGATCTGGTGGACAACAGAAG	0.507000													5	112					0	0	0.001168	0	0
TBC1D4	9882	broad.mit.edu	37	13	75873593	75873593	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:75873593C>A	ENST00000377636.3	-	17	3375	c.3029G>T	c.(3028-3030)gGg>gTg	p.G1010V	TBC1D4_ENST00000425511.1_Missense_Mutation_p.G174V|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G1002V|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G947V|TBC1D4_ENST00000478591.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1010	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AAAGCTGATCCCCTGACAGTA	0.493000													19	30					5.35356e-11	1.07863e-10	0.002780	1	0
DACH1	1602	broad.mit.edu	37	13	72063278	72063278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:72063278C>T	ENST00000305425.4	-	7	2001	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	DACH1_ENST00000359684.2_Missense_Mutation_p.E579K|DACH1_ENST00000313174.7_Missense_Mutation_p.E379K|DACH1_ENST00000354591.4_Missense_Mutation_p.E325K	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	577					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGCGGGGTCTCATCTGCATGT	0.428000													26	109					0	0	0.003330	0	0
DIAPH3	81624	broad.mit.edu	37	13	60544172	60544172	+	Silent	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:60544172A>T	ENST00000400324.4	-	17	2200	c.1980T>A	c.(1978-1980)acT>acA	p.T660T	DIAPH3_ENST00000400320.1_Silent_p.T614T|DIAPH3_ENST00000267215.4_Silent_p.T660T|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Silent_p.T590T|DIAPH3_ENST00000400330.1_Silent_p.T660T|DIAPH3_ENST00000377908.2_Silent_p.T649T	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	660	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AACAGTTTTCAGTCATTTCAT	0.353000													7	7					0	0	0.003080	0	0
PLEC	5339	broad.mit.edu	37	8	144996395	144996395	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:144996395C>G	ENST00000322810.4	-	32	8174	c.8005G>C	c.(8005-8007)Gag>Cag	p.E2669Q	PLEC_ENST00000345136.3_Missense_Mutation_p.E2532Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2500Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2555Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2518Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2510Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2532Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2536Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2559Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2669	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						tgctgctCCTCACGCAGCTGC	0.672000													3	12					0	0	0.004672	0	0
CALML4	91860	broad.mit.edu	37	15	68489825	68489825	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr15:68489825A>T	ENST00000448060.2	-	3	416	c.305T>A	c.(304-306)cTg>cAg	p.L102Q	CALML4_ENST00000395465.3_Intron|CALML4_ENST00000540479.1_Missense_Mutation_p.L73Q|RP11-315D16.2_ENST00000562767.1_Silent_p.P75P|CALML4_ENST00000467889.1_Missense_Mutation_p.L149Q	NM_001031733.2	NP_001026903.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	149	EF-hand 2.						calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TTTTGACCGCAGGTCGGACGC	0.498000													21	71					0	0	0.001523	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137497	40137497	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:40137497C>T	ENST00000278198.2	-	2	2309	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	LRRC4C_ENST00000530763.1_Missense_Mutation_p.E116K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E116K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E116K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	116					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCCCAATTTCAATGGTTCTG	0.428000													11	58					0	0	0.008291	0	0
MDGA2	161357	broad.mit.edu	37	14	47504427	47504427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:47504427C>G	ENST00000426342.1	-	8	1458	c.712G>C	c.(712-714)Gta>Cta	p.V238L	MDGA2_ENST00000399232.2_Missense_Mutation_p.V536L|MDGA2_ENST00000439988.2_Missense_Mutation_p.V467L|MDGA2_ENST00000357362.3_Missense_Mutation_p.V238L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	467					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTGCCAGTTACTTGACATTGC	0.413000													32	75					0	0	0.008361	0	0
ADAM29	11086	broad.mit.edu	37	4	175897135	175897135	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:175897135C>T	ENST00000359240.3	+	5	1129	c.459C>T	c.(457-459)gaC>gaT	p.D153D	ADAM29_ENST00000445694.1_Silent_p.D153D|ADAM29_ENST00000514159.1_Silent_p.D153D|ADAM29_ENST00000404450.4_Silent_p.D153D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	153					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACAAGATGGACAGTGAGGAGA	0.363000													19	67					0	0	0.006122	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47503732	47503732	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:47503732C>G	ENST00000404338.3	+	6	4287	c.4287C>G	c.(4285-4287)atC>atG	p.I1429M		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1429	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AACTCTTTATCCAGCAGTGCC	0.597000													30	103					0	0	0.008361	0	0
CDH19	28513	broad.mit.edu	37	18	64178908	64178908	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr18:64178908G>A	ENST00000262150.2	-	10	1765	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	491	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCACTGCACTGATAGTCTGAA	0.318000													20	32					0	0	0.007413	0	0
RPA1	6117	broad.mit.edu	37	17	1783840	1783840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr17:1783840G>A	ENST00000254719.5	+	12	1206	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	366					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TTTACAGGCTGATAAATTTGA	0.428000								Nucleotide excision repair (NER)					16	33					0	0	0.004990	0	0
SENP6	26054	broad.mit.edu	37	6	76344433	76344433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:76344433C>T	ENST00000370014.3	+	5	983	c.364C>T	c.(364-366)Caa>Taa	p.Q122*	SENP6_ENST00000327284.8_Nonsense_Mutation_p.Q122*|SENP6_ENST00000447266.2_Nonsense_Mutation_p.Q122*|SENP6_ENST00000370010.2_Nonsense_Mutation_p.Q122*	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	122					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TGAAAATACGCAAAATACGTC	0.318000													8	18					0	0	0.003080	0	0
P2RX6	9127	broad.mit.edu	37	22	21377467	21377467	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr22:21377467C>T	ENST00000413302.2	+	6	766	c.618C>T	c.(616-618)ttC>ttT	p.F206F	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Silent_p.F153F|P2RX6_ENST00000401443.1_Silent_p.F180F|P2RX6_ENST00000336296.2_Silent_p.F196F			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	206					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										CAGTCACCTTCAGCAAGTTCA	0.572000													11	283					0	0	0.008291	0	0
DTNA	1837	broad.mit.edu	37	18	32428280	32428280	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr18:32428280G>A	ENST00000283365.9	+	13	1466	c.1115G>A	c.(1114-1116)cGg>cAg	p.R372Q	DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269192.7_Missense_Mutation_p.R138Q|DTNA_ENST00000595022.1_Missense_Mutation_p.R369Q|DTNA_ENST00000598334.1_Missense_Mutation_p.R369Q|DTNA_ENST00000599844.1_Missense_Mutation_p.R51Q|DTNA_ENST00000598774.1_Missense_Mutation_p.R372Q|DTNA_ENST00000597599.1_Missense_Mutation_p.R369Q|DTNA_ENST00000598142.1_Missense_Mutation_p.R372Q|DTNA_ENST00000399121.5_Missense_Mutation_p.R369Q|DTNA_ENST00000399097.3_Missense_Mutation_p.R77Q|DTNA_ENST00000269191.6_Missense_Mutation_p.R429Q|DTNA_ENST00000601125.1_Missense_Mutation_p.R51Q|DTNA_ENST00000591182.1_Missense_Mutation_p.R77Q|DTNA_ENST00000597674.1_Missense_Mutation_p.R51Q|DTNA_ENST00000399113.3_Missense_Mutation_p.R429Q|DTNA_ENST00000444659.1_Missense_Mutation_p.R429Q|DTNA_ENST00000348997.5_Missense_Mutation_p.R426Q|DTNA_ENST00000556414.3_Missense_Mutation_p.R81Q|DTNA_ENST00000269190.7_Missense_Mutation_p.R430Q	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	401					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGTTCAAACCGGCTTGATGAA	0.448000													20	24					0	0	0.002780	0	0
DPP10	57628	broad.mit.edu	37	2	116447315	116447315	+	Splice_Site	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:116447315G>A	ENST00000410059.1	+	6	974	c.494_splice	c.e6+1	p.R165_splice	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Splice_Site_p.R115_splice|DPP10_ENST00000393147.2_Splice_Site_p.R169_splice|DPP10_ENST00000310323.8_Splice_Site_p.R158_splice	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	165					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATACACACTAGGTAAGTTCTT	0.264000													4	16					0	0	0.000248	0	0
DCAF12	25853	broad.mit.edu	37	9	34098412	34098412	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr9:34098412G>C	ENST00000361264.4	-	5	1046	c.705C>G	c.(703-705)atC>atG	p.I235M		NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	235						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCTTGTGAGTGATGTGTGCAT	0.483000													7	108					0	0	0.001984	0	0
SSR1	6745	broad.mit.edu	37	6	7301699	7301699	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:7301699G>T	ENST00000244763.4	-	4	473	c.387C>A	c.(385-387)gaC>gaA	p.D129E	SSR1_ENST00000462112.1_Missense_Mutation_p.D129E|SSR1_ENST00000534851.1_Missense_Mutation_p.D102E|SSR1_ENST00000479365.1_Missense_Mutation_p.D129E|SSR1_ENST00000474597.1_Missense_Mutation_p.D129E|SSR1_ENST00000489567.1_Intron|SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000397511.2_Missense_Mutation_p.D129E	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	129					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					AAAACTGGTAGTCCTGAGGAT	0.428000													23	57					3.7963e-18	8.05014e-18	0.003330	1	0
LAMC3	10319	broad.mit.edu	37	9	133957539	133957539	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr9:133957539G>C	ENST00000361069.4	+	24	4154	c.4021G>C	c.(4021-4023)Gat>Cat	p.D1341H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1341	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCTGCTGGCTGATCTGGAAGG	0.617000													13	5					0	0	0.001855	0	0
CSMD1	64478	broad.mit.edu	37	8	3267046	3267046	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:3267046G>T	ENST00000602557.1	-	14	2201	c.1646C>A	c.(1645-1647)aCa>aAa	p.T549K	CSMD1_ENST00000602723.1_Missense_Mutation_p.T549K|CSMD1_ENST00000542608.1_Missense_Mutation_p.T548K|CSMD1_ENST00000539096.1_Missense_Mutation_p.T548K|CSMD1_ENST00000537824.1_Missense_Mutation_p.T548K|CSMD1_ENST00000400186.3_Missense_Mutation_p.T549K|CSMD1_ENST00000520002.1_Missense_Mutation_p.T549K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	549	Sushi 3.					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)		AAAGGTGAGTGTATCTCCATG	0.527000													4	5					0.000602214	0.00119525	0.000602	1	0
OR5AR1	219493	broad.mit.edu	37	11	56431302	56431302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr11:56431302C>G	ENST00000302969.2	+	1	165	c.141C>G	c.(139-141)atC>atG	p.I47M		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GTATGATTATCCTGATTACAA	0.473000													10	183					0	0	0.001368	0	0
NRXN2	9379	broad.mit.edu	37	11	64428240	64428240	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr11:64428240G>A	ENST00000265459.6	-	10	2631	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	NRXN2_ENST00000377551.1_Missense_Mutation_p.R724W|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000409571.1_Missense_Mutation_p.R717W|NRXN2_ENST00000377559.3_Missense_Mutation_p.R693W	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	724	EGF-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCACAGACCCGCCCAAGAAAG	0.592000													17	45					0	0	0.004990	0	0
MKL1	57591	broad.mit.edu	37	22	40825650	40825650	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr22:40825650G>T	ENST00000396617.3	-	7	851	c.261C>A	c.(259-261)aaC>aaA	p.N87K	MKL1_ENST00000402042.1_Missense_Mutation_p.N87K|MKL1_ENST00000407029.1_Missense_Mutation_p.N87K|MKL1_ENST00000402630.1_Missense_Mutation_p.N87K|MKL1_ENST00000355630.3_Missense_Mutation_p.N87K			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	87	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CAGGAAGGATGTTCTTCTCCA	0.577000			T	RBM15	acute megakaryocytic leukemia								35	14					1.99505e-19	4.25829e-19	0.002445	1	0
PSIP1	11168	broad.mit.edu	37	9	15469058	15469058	+	Splice_Site	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr9:15469058T>C	ENST00000380733.4	-	13	1448		c.e13-2		PSIP1_ENST00000380738.4_Splice_Site			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTTCACATCCTTCATGACAAA	0.353000													11	18					0	0	0.008291	0	0
WRB	7485	broad.mit.edu	37	21	40762689	40762689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr21:40762689G>A	ENST00000333781.5	+	2	309	c.168G>A	c.(166-168)atG>atA	p.M56I	WRB_ENST00000398753.1_Missense_Mutation_p.M22I|WRB_ENST00000380708.1_Missense_Mutation_p.M22I|WRB_ENST00000541890.1_Missense_Mutation_p.M56I|WRB_ENST00000466787.1_3'UTR	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	56						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TCCAGGACATGAAGCAGGAGC	0.542000													4	28					0	0	0.000602	0	0
CSPP1	79848	broad.mit.edu	37	8	68007843	68007843	+	Missense_Mutation	SNP	C	C	T	rs114953032	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:68007843C>T	ENST00000262210.5	+	6	857	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	311						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TAATGAGGATCGTGTTTTTGA	0.373000													6	34					0	0	0.003080	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280474	105280474	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:105280474G>A	ENST00000327674.4	-	1	911	c.576C>T	c.(574-576)ctC>ctT	p.L192L	SERPINA7_ENST00000372563.1_Silent_p.L192L			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	192					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.L192L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGTTTGGCTTGAGGTCTTGAA	0.418000													18	103					0	0	0.006122	0	0
SLC24A4	123041	broad.mit.edu	37	14	92959967	92959967	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr14:92959967G>A	ENST00000532405.1	+	17	2090	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	SLC24A4_ENST00000531433.1_Missense_Mutation_p.D603N|SLC24A4_ENST00000351924.5_Missense_Mutation_p.D586N|SLC24A4_ENST00000393265.2_Missense_Mutation_p.D558N|SLC24A4_ENST00000298877.1_Missense_Mutation_p.D605N			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	622						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.D605H(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCGGGAAGACGATTAGCGCTG	0.547000													4	20					0	0	0.000602	0	0
NUP62	23636	broad.mit.edu	37	19	50412910	50412910	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:50412910G>C	ENST00000596217.1	-	2	2042	c.155C>G	c.(154-156)aCa>aGa	p.T52R	NUP62_ENST00000597723.1_Missense_Mutation_p.T52R|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000422090.2_Missense_Mutation_p.T52R|NUP62_ENST00000413454.1_Missense_Mutation_p.T52R|NUP62_ENST00000597029.1_Missense_Mutation_p.T52R|IL4I1_ENST00000595948.1_Intron|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.T52R			P37198	NUP62_HUMAN	nucleoporin 62kDa	52	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGGGTACTTGTGGCTGGTTG	0.567000													7	134					0	0	0.003080	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338237	28338237	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr21:28338237G>A	ENST00000284987.5	-	1	595	c.474C>T	c.(472-474)gtC>gtT	p.V158V		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	158					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						GCGCGTGCTTGACCGCGAAGA	0.657000													7	26					0	0	0.003080	0	0
DGCR2	9993	broad.mit.edu	37	22	19076905	19076905	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr22:19076905C>T	ENST00000545799.1	-	2	378	c.178G>A	c.(178-180)Gag>Aag	p.E60K	DGCR2_ENST00000263196.7_Missense_Mutation_p.E60K|DGCR2_ENST00000537045.1_Intron			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	60	LDL-receptor class A.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TCGTCGCTCTCATCCTCGCAA	0.607000													14	123					0	0	0.003163	0	0
NRM	11270	broad.mit.edu	37	6	30658649	30658649	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:30658649G>C	ENST00000259953.4	-	2	454	c.103C>G	c.(103-105)Ctt>Gtt	p.L35V	NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376420.5_Missense_Mutation_p.L35V|NRM_ENST00000376421.5_Missense_Mutation_p.L35V	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	35						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						ATCCCTCCAAGAAGTGGCCGA	0.642000													21	47					0	0	0.001882	0	0
IFT80	57560	broad.mit.edu	37	3	160099354	160099354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:160099354G>A	ENST00000326448.7	-	3	628	c.196C>T	c.(196-198)Cca>Tca	p.P66S	IFT80_ENST00000477495.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	66						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)			AAACTTTTTGGAAACCAGTGA	0.358000													9	51					0	0	0.006214	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118394400	118394400	+	RNA	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr10:118394400A>T	ENST00000537242.1	+	0	892				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_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			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TTCGAGTATTACTCAAGCAGC	0.498000													7	34					0	0	0.003080	0	0
ZNF708	7562	broad.mit.edu	37	19	21492100	21492100	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:21492100T>A	ENST00000356929.3	-	3	371	c.174A>T	c.(172-174)caA>caT	p.Q58H		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GCTCTTTTCCTTGCTCCAGAC	0.428000													24	72					0	0	0.008361	0	0
CHI3L2	1117	broad.mit.edu	37	1	111777615	111777615	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:111777615G>C	ENST00000445067.2	+	7	1187	c.416G>C	c.(415-417)gGa>gCa	p.G139A	CHI3L2_ENST00000369744.2_Missense_Mutation_p.G129A|CHI3L2_ENST00000524472.1_Missense_Mutation_p.G60A|CHI3L2_ENST00000466741.1_Missense_Mutation_p.G60A|CHI3L2_ENST00000369748.4_Missense_Mutation_p.G139A			Q15782	CH3L2_HUMAN	chitinase 3-like 2	139					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		AACTTTGATGGACTGGATGTA	0.398000													4	43					0	0	0.000602	0	0
ZNF493	284443	broad.mit.edu	37	19	21606747	21606747	+	Missense_Mutation	SNP	G	G	C	rs143136118		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:21606747G>C	ENST00000392288.2	+	4	1395	c.1286G>C	c.(1285-1287)gGa>gCa	p.G429A	ZNF493_ENST00000355504.4_Missense_Mutation_p.G301A|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATTCATACTGGAGAGAAACCC	0.338000													3	30					0	0	0.004672	0	0
FOXRED2	80020	broad.mit.edu	37	22	36886209	36886209	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr22:36886209T>C	ENST00000397224.4	-	9	1994	c.1901A>G	c.(1900-1902)cAc>cGc	p.H634R	FOXRED2_ENST00000366463.3_Missense_Mutation_p.H186R|FOXRED2_ENST00000397223.4_Missense_Mutation_p.H634R|FOXRED2_ENST00000216187.6_Missense_Mutation_p.H634R	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	634					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCCACTCTGTGCTGCCAAAG	0.637000													12	100					0	0	0.001855	0	0
KCNH5	27133	broad.mit.edu	37	14	63175134	63175134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr14:63175134C>T	ENST00000322893.7	-	11	2327	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	687					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGCGCTCCTCCTCCTCTTTC	0.493000													16	68					0	0	0.004990	0	0
CHD3	1107	broad.mit.edu	37	17	7794330	7794330	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr17:7794330G>A	ENST00000380358.4	+	4	635	c.634G>A	c.(634-636)Gag>Aag	p.E212K	CHD3_ENST00000330494.7_Missense_Mutation_p.E153K|CHD3_ENST00000358181.4_Missense_Mutation_p.E153K	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	153	Poly-Ala.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGTGTTCTCTGAGGAGGATTA	0.512000													28	70					0	0	0.002096	0	0
CTNNA2	1496	broad.mit.edu	37	2	79878701	79878701	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:79878701C>T	ENST00000466387.1	+	6	743	c.19C>T	c.(19-21)Cct>Tct	p.P7S	CTNNA2_ENST00000540488.1_Missense_Mutation_p.P7S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P41S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P7S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P7S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P7S|CTNNA2_ENST00000409266.1_Missense_Mutation_p.P7S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	7					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGCAACTTCACCTATCATTCT	0.403000													24	57					0	0	0.004656	0	0
RBM5	10181	broad.mit.edu	37	3	50151488	50151488	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:50151488G>C	ENST00000347869.3	+	19	1898	c.1723G>C	c.(1723-1725)Gaa>Caa	p.E575Q		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	575	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)		AGAAAGGAGAGAATCTGCTGC	0.423000													22	24					0	0	0.001523	0	0
STAT1	6772	broad.mit.edu	37	2	191863005	191863005	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:191863005C>T	ENST00000361099.3	-	8	958	c.571G>A	c.(571-573)Gat>Aat	p.D191N	STAT1_ENST00000409465.1_Missense_Mutation_p.D191N|STAT1_ENST00000540176.1_Intron|STAT1_ENST00000392322.3_Missense_Mutation_p.D191N|STAT1_ENST00000392323.2_Missense_Mutation_p.D193N	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	191					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGTTTCTGATCACTCTTTGCC	0.338000													7	64					0	0	0.004482	0	0
MYO18B	84700	broad.mit.edu	37	22	26343755	26343755	+	Silent	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr22:26343755G>C	ENST00000335473.7	+	36	5959	c.5709G>C	c.(5707-5709)ctG>ctC	p.L1903L	MYO18B_ENST00000407587.2_Silent_p.L1904L|MYO18B_ENST00000536101.1_Silent_p.L1903L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1903	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGATGACCTGAATGAGCTGA	0.557000													9	18					0	0	0.008291	0	0
CHRDL1	91851	broad.mit.edu	37	X	109922601	109922601	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:109922601C>T	ENST00000218054.4	-	11	1399	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	CHRDL1_ENST00000444321.2_Silent_p.E402E|CHRDL1_ENST00000372042.1_Silent_p.E403E|CHRDL1_ENST00000372045.1_Silent_p.E395E|CHRDL1_ENST00000394797.4_Silent_p.E401E|CHRDL1_ENST00000434224.1_Silent_p.E322E|CHRDL1_ENST00000482160.1_Silent_p.E323E	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	395					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AGTGAGGAAGCTCCTCAAACA	0.453000													45	15					0	0	0.003610	0	0
FN1	2335	broad.mit.edu	37	2	216286886	216286886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:216286886G>C	ENST00000354785.4	-	10	1843	c.1474C>G	c.(1474-1476)Cac>Gac	p.H492D	FN1_ENST00000359671.1_Missense_Mutation_p.H492D|FN1_ENST00000323926.6_Missense_Mutation_p.H492D|FN1_ENST00000357867.4_Missense_Mutation_p.H492D|FN1_ENST00000421182.1_Missense_Mutation_p.H492D|FN1_ENST00000443816.1_Missense_Mutation_p.H492D|FN1_ENST00000426059.1_Missense_Mutation_p.H492D|FN1_ENST00000432072.2_Missense_Mutation_p.H492D|FN1_ENST00000346544.3_Missense_Mutation_p.H492D|FN1_ENST00000345488.5_Missense_Mutation_p.H492D|FN1_ENST00000446046.1_Missense_Mutation_p.H492D|FN1_ENST00000357009.2_Missense_Mutation_p.H492D|FN1_ENST00000356005.4_Missense_Mutation_p.H492D|FN1_ENST00000336916.4_Missense_Mutation_p.H492D			P02751	FINC_HUMAN	fibronectin 1	492	Collagen-binding.|Fibronectin type-I 7.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCATCATGTGACCCATGTCA	0.478000													21	100					0	0	0.001523	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216405	20216405	+	Silent	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr14:20216405C>A	ENST00000331723.1	+	1	819	c.819C>A	c.(817-819)tcC>tcA	p.S273S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATATTCTCCTTGTTTTACA	0.433000													20	157					7.41877e-09	1.53321e-08	0.001882	1	0
FMN2	56776	broad.mit.edu	37	1	240371390	240371390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:240371390G>A	ENST00000319653.9	+	5	3508	c.3278G>A	c.(3277-3279)gGa>gAa	p.G1093E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1093	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTACCCGGAGCGGGCATA	0.726000													3	9					0	0	0.004672	0	0
DHX8	1659	broad.mit.edu	37	17	41585799	41585799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr17:41585799C>T	ENST00000262415.3	+	16	2485	c.2413C>T	c.(2413-2415)Cca>Tca	p.P805S	DHX8_ENST00000540306.1_Missense_Mutation_p.P805S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	805	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACCTGATGTTCCAGAGTTAAT	0.488000													13	61					0	0	0.001855	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713495	46713495	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:46713495C>G	ENST00000318962.4	-	24	2646	c.2563G>C	c.(2563-2565)Gag>Cag	p.E855Q	ALS2CL_ENST00000383742.3_Missense_Mutation_p.E202Q|ALS2CL_ENST00000415953.1_Missense_Mutation_p.E855Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	855	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCCAGCACCTCCAGCTTCTCC	0.622000													3	50					0	0	0.004672	0	0
ACSS3	79611	broad.mit.edu	37	12	81503457	81503457	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr12:81503457T>A	ENST00000548058.1	+	2	1340	c.430T>A	c.(430-432)Ttt>Att	p.F144I	ACSS3_ENST00000261206.3_Missense_Mutation_p.F143I|RP11-543H12.1_ENST00000547123.1_RNA			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	144						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TAAAGCAACCTTTACCTATAA	0.299000													7	25					0	0	0.003080	0	0
C16orf46	123775	broad.mit.edu	37	16	81087678	81087678	+	Nonstop_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr16:81087678A>G	ENST00000378611.4	-	4	1280	c.1165T>C	c.(1165-1167)Tag>Cag	p.*389Q	RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	0										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCCTCTCCTACTTTATCTTC	0.408000													16	38					0	0	0.004990	0	0
REG1B	5968	broad.mit.edu	37	2	79314023	79314023	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:79314023C>G	ENST00000305089.3	-	3	178	c.98G>C	c.(97-99)cGa>cCa	p.R33P		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	33					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GCAGCTGATTCGGGGATTAGG	0.498000													68	53					0	0	0.003610	0	0
DNAH2	146754	broad.mit.edu	37	17	7637808	7637808	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr17:7637808C>T	ENST00000572933.1	+	7	2220	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	DNAH2_ENST00000570791.1_Missense_Mutation_p.R254W|DNAH2_ENST00000389173.2_Missense_Mutation_p.R254W|DNAH2_ENST00000082259.3_Missense_Mutation_p.R254W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	254	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACTGGACCCGGCAGATAAA	0.537000													9	38					0	0	0.004482	0	0
CYP3A7	1551	broad.mit.edu	37	7	99306662	99306662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:99306662C>T	ENST00000336374.2	-	11	1251	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	417					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TCCTACCTTTCAGGGAGGAAC	0.512000													18	89					0	0	0.004990	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188034	70188034	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:70188034G>A	ENST00000320256.4	-	1	1363	c.787C>T	c.(787-789)Cta>Tta	p.L263L		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	263	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGCTTGCCTAGGGACACCGCT	0.542000													25	60					0	0	0.003330	0	0
MACF1	23499	broad.mit.edu	37	1	39749116	39749116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:39749116A>G	ENST00000564288.1	+	9	1621	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	MACF1_ENST00000317713.7_Missense_Mutation_p.I287V|MACF1_ENST00000567887.1_Missense_Mutation_p.I319V|MACF1_ENST00000539005.1_Missense_Mutation_p.I287V|MACF1_ENST00000545844.1_Missense_Mutation_p.I287V|MACF1_ENST00000361689.2_Missense_Mutation_p.I287V|MACF1_ENST00000372915.3_Missense_Mutation_p.I287V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	287	Actin-binding.|CH 2.				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)			AAAGTCTGTAATCACTTATGT	0.418000													13	37					0	0	0.002450	0	0
SLC4A8	9498	broad.mit.edu	37	12	51851325	51851325	+	Splice_Site	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr12:51851325T>C	ENST00000453097.2	+	6	980		c.e6+2		SLC4A8_ENST00000358657.3_Splice_Site|SLC4A8_ENST00000394856.1_Splice_Site|SLC4A8_ENST00000535225.2_Splice_Site|SLC4A8_ENST00000514353.3_Splice_Site	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8						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)		ATAAACATGGTAAGATTATTA	0.388000													17	33					0	0	0.004990	0	0
ZIC4	84107	broad.mit.edu	37	3	147114239	147114239	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:147114239G>T	ENST00000383075.3	-	3	600	c.88C>A	c.(88-90)Cat>Aat	p.H30N	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.H68N|ZIC4_ENST00000484399.1_Missense_Mutation_p.H30N|ZIC4_ENST00000473123.1_Missense_Mutation_p.H30N|ZIC4_ENST00000525172.2_Missense_Mutation_p.H80N	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	30						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGGGGGCCATGGTGTCCAGAG	0.692000													10	43					3.07112e-06	6.2478e-06	0.000978	1	0
FAM181A	90050	broad.mit.edu	37	14	94395169	94395169	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr14:94395169G>A	ENST00000267594.5	+	3	1031	c.724G>A	c.(724-726)Gag>Aag	p.E242K	FAM181A_ENST00000556222.1_Missense_Mutation_p.E180K|FAM181A_ENST00000557719.1_Missense_Mutation_p.E180K|FAM181A_ENST00000557000.2_Missense_Mutation_p.E180K	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	242										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CCTGGGACCTGAGACTACCCT	0.622000													4	33					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179655440	179655440	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:179655440C>T	ENST00000589042.1	-	11	2019	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	TTN_ENST00000360870.5_Missense_Mutation_p.E599K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E599K|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E599K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	599							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)			ATCACCTTTTCATAACTTAGG	0.408000													6	82					0	0	0.001168	0	0
RHPN1	114822	broad.mit.edu	37	8	144464817	144464817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:144464817C>T	ENST00000289013.6	+	15	2110	c.2009C>T	c.(2008-2010)cCg>cTg	p.P670L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	695					signal transduction	intracellular		p.P670Q(2)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CCAGGGTGGCCGTGAGGGCCA	0.687000													16	14					0	0	0.004007	0	0
TAB2	23118	broad.mit.edu	37	6	149699950	149699950	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:149699950C>T	ENST00000367456.1	+	4	1476	c.899C>T	c.(898-900)tCa>tTa	p.S300L	TAB2_ENST00000392282.1_Missense_Mutation_p.S300L|TAB2_ENST00000286332.5_Missense_Mutation_p.S300L|TAB2_ENST00000538427.1_Missense_Mutation_p.S300L|TAB2_ENST00000536230.1_Missense_Mutation_p.S268L			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	300					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACCATTCATTCATCTGGTAGC	0.433000													9	82					0	0	0.006214	0	0
CHIC2	26511	broad.mit.edu	37	4	54880271	54880271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:54880271C>T	ENST00000263921.3	-	4	735	c.346G>A	c.(346-348)Gag>Aag	p.E116K	FIP1L1_ENST00000507166.1_Intron|CHIC2_ENST00000512964.1_Intron	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	116						plasma membrane	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AATAACTTCTCAATCGATCTT	0.403000			T	ETV6	AML								10	19					0	0	0.000978	0	0
ERC2	26059	broad.mit.edu	37	3	55984515	55984515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:55984515G>A	ENST00000288221.6	-	13	2596	c.2341C>T	c.(2341-2343)Cag>Tag	p.Q781*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	781						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTAGTAACTGAGCATTTTTC	0.428000													10	35					0	0	0.006214	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628225	29628225	+	Splice_Site	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr20:29628225A>G	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGTTTCACTTAGGGGAAAATG	0.358000													3	74					0	0	0.000602	0	0
TDRD5	163589	broad.mit.edu	37	1	179562647	179562647	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:179562647G>A	ENST00000444136.1	+	3	535	c.285G>A	c.(283-285)agG>agA	p.R95R	TDRD5_ENST00000294848.8_Silent_p.R95R|TDRD5_ENST00000367614.1_Silent_p.R95R	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	95	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAAAACAGAGGAGCAGCCATA	0.438000													15	43					0	0	0.002450	0	0
EEA1	8411	broad.mit.edu	37	12	93213152	93213152	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr12:93213152G>C	ENST00000322349.8	-	14	1924	c.1660C>G	c.(1660-1662)Cag>Gag	p.Q554E		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	554	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCACCAGCCTGAATTTTTGCA	0.313000													6	30					0	0	0.001984	0	0
PABPC4	8761	broad.mit.edu	37	1	40027815	40027815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:40027815C>T	ENST00000372857.3	-	14	2567	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	PABPC4_ENST00000372856.3_Missense_Mutation_p.G579E|PABPC4_ENST00000372858.3_Missense_Mutation_p.G608E|PABPC4_ENST00000372862.3_Missense_Mutation_p.G563E	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	592	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCAGCATTCCCGTGATCTT	0.498000													7	28					0	0	0.001984	0	0
PLP1	5354	broad.mit.edu	37	X	103041526	103041526	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:103041526C>T	ENST00000418604.1	+	4	604	c.324C>T	c.(322-324)atC>atT	p.I108I	PLP1_ENST00000303958.2_Silent_p.I108I|PLP1_ENST00000361621.2_Silent_p.I108I	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	108					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGACCACCATCTGCGGCAAGG	0.582000													12	110					0	0	0.000978	0	0
LEPR	3953	broad.mit.edu	37	1	66101929	66101929	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:66101929C>A	ENST00000349533.6	+	20	2914	c.2729C>A	c.(2728-2730)cCt>cAt	p.P910H	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	910					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ACATGTGGTCCTCTTCTTTTG	0.348000													39	96					7.63091e-17	1.6129e-16	0.007835	1	0
SP140	11262	broad.mit.edu	37	2	231112644	231112644	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:231112644C>T	ENST00000392045.3	+	8	870	c.756C>T	c.(754-756)aaC>aaT	p.N252N	SP140_ENST00000343805.6_Silent_p.N226N|SP140_ENST00000350136.5_Intron|SP140_ENST00000486687.2_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000420434.3_Silent_p.N252N	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	252					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAGAAAGCAACGGGATGATAG	0.443000													32	70					0	0	0.002445	0	0
DNAH7	56171	broad.mit.edu	37	2	196664153	196664153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:196664153C>T	ENST00000312428.6	-	55	10320	c.10220G>A	c.(10219-10221)cGt>cAt	p.R3407H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3407	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						AATGAATGCACGTCCCAATCT	0.418000													28	75					0	0	0.002445	0	0
UBA1	7317	broad.mit.edu	37	X	47074277	47074277	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:47074277C>T	ENST00000335972.6	+	26	3309	c.3126C>T	c.(3124-3126)gaC>gaT	p.D1042D	UBA1_ENST00000377269.3_Silent_p.D490D|UBA1_ENST00000377351.4_Silent_p.D1042D	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	1042					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTGTAACGACGAGAGCGGCG	0.627000													23	16					0	0	0.003330	0	0
MUC5AC	4586	broad.mit.edu	37	11	1157901	1157901	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr11:1157901G>A	ENST00000356191.2	+	13	959	c.959G>A	c.(958-960)gGg>gAg	p.G320E						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CATGCAGGGGGGTTGCCCCAG	0.667000													10	31					0	0	0.006214	0	0
C7orf66	154907	broad.mit.edu	37	7	108524578	108524578	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:108524578C>G	ENST00000379007.2	-	1	66	c.12G>C	c.(10-12)gtG>gtC	p.V4V		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	4						integral to membrane		p.V4V(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TGGGTGTCATCACAGCCATCA	0.413000													3	54					0	0	0.004672	0	0
PMVK	10654	broad.mit.edu	37	1	154898882	154898882	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:154898882G>A	ENST00000368467.3	-	4	695	c.390C>T	c.(388-390)cgC>cgT	p.R130R		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	130					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACGCTACAACGCGGACCGTCT	0.627000													7	73					0	0	0.001984	0	0
CLTCL1	8218	broad.mit.edu	37	22	19209480	19209480	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr22:19209480C>G	ENST00000263200.10	-	16	2627	c.2555G>C	c.(2554-2556)aGa>aCa	p.R852T	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R852T|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R852T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	852	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTACCTATTTCTTTTTTCTAC	0.418000			T	?	ALCL								7	106					0	0	0.003080	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775694	77775694	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:77775694T>C	ENST00000521891.2	+	11	10192	c.9744T>C	c.(9742-9744)aaT>aaC	p.N3248N	ZFHX4_ENST00000518282.1_Silent_p.N3222N|ZFHX4_ENST00000050961.6_Silent_p.N3199N|ZFHX4_ENST00000455469.2_Silent_p.N3203N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATTACAGAATGCAATTGCTG	0.443000										HNSCC(33;0.089)			39	134					0	0	0.005524	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40456555	40456555	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:40456555G>C	ENST00000378438.4	+	4	513	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	ATP6AP2_ENST00000535539.1_Intron|ATP6AP2_ENST00000486558.1_Intron|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.E43Q|ATP6AP2_ENST00000535777.1_Intron	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	119					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTTATTTTCTGAGGAAACTCC	0.338000													8	21					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13901432	13901432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:13901432G>A	ENST00000265104.4	-	14	2085	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	661	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R661C(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGTAACTGCGAATTATAGGT	0.532000									Kartagener syndrome				16	30					0	0	0.004007	0	0
SNHG14	104472715	broad.mit.edu	37	15	25339225	25339225	+	RNA	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr15:25339225G>A	ENST00000546682.1	+	0	1110				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-24_ENST00000384549.1_RNA	NR_003361.1																						TTGGAAAGCTGAACAAAATGA	0.393000													18	87					0	0	0.007413	0	0
NOL4	8715	broad.mit.edu	37	18	31523045	31523045	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr18:31523045C>T	ENST00000261592.5	-	9	1823	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	NOL4_ENST00000538587.1_Missense_Mutation_p.R435H|NOL4_ENST00000535384.1_Missense_Mutation_p.R224H|NOL4_ENST00000535475.1_Missense_Mutation_p.R290H|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	509						nucleolus	RNA binding	p.R509L(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCTCCAGACGCATCCTCTT	0.443000													10	56					0	0	0.001368	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854712	79854712	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:79854712G>C	ENST00000338682.3	-	5	1799	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	376						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AAGGCCAGCTGAGAGCTGGGA	0.438000													6	39					0	0	0.001168	0	0
FLT4	2324	broad.mit.edu	37	5	180057046	180057046	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:180057046C>A	ENST00000261937.6	-	5	651	c.573G>T	c.(571-573)atG>atT	p.M191I	FLT4_ENST00000393347.3_Missense_Mutation_p.M191I|FLT4_ENST00000502649.1_Missense_Mutation_p.M191I|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	191	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGACACGAGCATGCCCCGCC	0.637000													7	29					1.58986e-06	3.24452e-06	0.008291	1	0
EHBP1	23301	broad.mit.edu	37	2	63217961	63217961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:63217961G>A	ENST00000263991.5	+	18	3414	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	EHBP1_ENST00000354487.3_Missense_Mutation_p.E943K|EHBP1_ENST00000405015.3_Missense_Mutation_p.E907K|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405289.1_Missense_Mutation_p.E943K|EHBP1_ENST00000431489.1_Missense_Mutation_p.E907K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	978						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGAGAGCTCAGAGCAGGACAT	0.418000													6	38					0	0	0.001984	0	0
CNGB3	54714	broad.mit.edu	37	8	87645041	87645041	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:87645041A>G	ENST00000320005.5	-	11	1306	c.1259T>C	c.(1258-1260)aTt>aCt	p.I420T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	420					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						TTGAAAAACAATTTCAAATAA	0.353000													14	19					0	0	0.001855	0	0
PHRF1	57661	broad.mit.edu	37	11	587346	587346	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr11:587346C>G	ENST00000264555.5	+	4	430	c.302C>G	c.(301-303)tCt>tGt	p.S101C	PHRF1_ENST00000533464.1_Missense_Mutation_p.S97C|PHRF1_ENST00000413872.2_Missense_Mutation_p.S100C|PHRF1_ENST00000416188.2_Missense_Mutation_p.S101C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	101							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTTTCAATTCTGATGATGAT	0.562000													17	31					0	0	0.004007	0	0
OBSCN	84033	broad.mit.edu	37	1	228521393	228521393	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:228521393C>T	ENST00000570156.2	+	70	18911	c.18837C>T	c.(18835-18837)tcC>tcT	p.S6279S	OBSCN_ENST00000366709.4_Silent_p.S2441S|OBSCN_ENST00000284548.11_Silent_p.S5322S|OBSCN_ENST00000422127.1_Silent_p.S5322S|OBSCN_ENST00000366707.4_Silent_p.S2956S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5322					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATCATCTCCGTCACCCGGG	0.582000													9	8					0	0	0.004482	0	0
TTC37	9652	broad.mit.edu	37	5	94842673	94842673	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:94842673G>A	ENST00000358746.2	-	30	3355	c.3057C>T	c.(3055-3057)taC>taT	p.Y1019Y	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1019							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTGCAACATTGTAAGTATCTT	0.323000													15	32					0	0	0.004007	0	0
SLC36A4	120103	broad.mit.edu	37	11	92918982	92918982	+	Splice_Site	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr11:92918982T>A	ENST00000326402.4	-	2	186		c.e2-2		SLC36A4_ENST00000529184.1_Splice_Site	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4						L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CATCCATATCTTTAAAAAAGA	0.333000													9	13					0	0	0.004482	0	0
EXD2	55218	broad.mit.edu	37	14	69701456	69701456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr14:69701456C>T	ENST00000409014.1	+	7	1039	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F	EXD2_ENST00000409949.1_Missense_Mutation_p.L128F|EXD2_ENST00000312994.5_Missense_Mutation_p.L253F|EXD2_ENST00000492815.1_Intron|EXD2_ENST00000409018.3_Missense_Mutation_p.L253F|EXD2_ENST00000409242.1_Missense_Mutation_p.L128F|EXD2_ENST00000449989.1_Missense_Mutation_p.L128F|EXD2_ENST00000409675.1_Missense_Mutation_p.L128F	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	128					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TTCAGTGGCTCTCTTTCTTCA	0.433000													9	26					0	0	0.006214	0	0
NALCN	259232	broad.mit.edu	37	13	101890129	101890129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr13:101890129G>A	ENST00000251127.6	-	12	1492	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.H471Y	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	471						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATTGTGAATGATAAAGATCT	0.308000													39	130					0	0	0.006999	0	0
MYH8	4626	broad.mit.edu	37	17	10309390	10309390	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr17:10309390C>G	ENST00000403437.2	-	21	2494	c.2400G>C	c.(2398-2400)atG>atC	p.M800I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	800	IQ.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCTACCCTCATTAGGAATC	0.373000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	66					0	0	0.004482	0	0
TCN2	6948	broad.mit.edu	37	22	31010483	31010483	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr22:31010483C>T	ENST00000215838.3	+	4	1069	c.575C>T	c.(574-576)tCt>tTt	p.S192F	TCN2_ENST00000407817.3_Missense_Mutation_p.S165F|TCN2_ENST00000405742.3_Missense_Mutation_p.S188F			P20062	TCO2_HUMAN	transcobalamin II	192	Cobalamin binding.				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCCACCATTCTGTGGGTGAG	0.602000													9	17					0	0	0.000978	0	0
CCDC36	339834	broad.mit.edu	37	3	49294689	49294689	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:49294689G>C	ENST00000438782.1	+	8	1995	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H	CCDC36_ENST00000296449.5_Missense_Mutation_p.D587H|CCDC36_ENST00000452691.2_Missense_Mutation_p.D587H			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	587										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CCTGGGTTTTGATAGCAGTGA	0.478000													3	162					0	0	0.000248	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779410	205779410	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:205779410G>A	ENST00000367137.3	-	2	1174	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	54						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCGTTGGCCCGAGACTCAATC	0.652000											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	99					0	0	0.008291	0	0
IKBKB	3551	broad.mit.edu	37	8	42179657	42179657	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:42179657C>G	ENST00000520810.1	+	18	2010	c.1824C>G	c.(1822-1824)atC>atG	p.I608M	IKBKB_ENST00000520835.1_Missense_Mutation_p.I606M|IKBKB_ENST00000416505.2_Missense_Mutation_p.I549M|IKBKB_ENST00000379708.3_Missense_Mutation_p.I385M|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	608					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TGCGAGTGATCTATACGCAGC	0.557000													8	63					0	0	0.006214	0	0
CR1	1378	broad.mit.edu	37	1	207741206	207741206	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:207741206G>A	ENST00000367049.4	+	25	3990	c.3990G>A	c.(3988-3990)ggG>ggA	p.G1330G	CR1_ENST00000400960.2_Silent_p.G880G|CR1_ENST00000367051.1_Silent_p.G880G|CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Silent_p.G880G	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	880	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCCTAATGGGAGACACACAG	0.433000													10	367					0	0	0.008291	0	0
REN	5972	broad.mit.edu	37	1	204128555	204128555	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:204128555C>G	ENST00000367195.2	-	5	704	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	REN_ENST00000272190.8_Missense_Mutation_p.E221Q			P00797	RENI_HUMAN	renin	221					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAGACGTCCTCTTTTAGCACC	0.562000													18	104					0	0	0.006122	0	0
SBNO1	55206	broad.mit.edu	37	12	123780467	123780467	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr12:123780467C>G	ENST00000420886.2	-	31	4169	c.4170G>C	c.(4168-4170)ttG>ttC	p.L1390F	SBNO1_ENST00000602750.1_Missense_Mutation_p.L1389F|SBNO1_ENST00000602398.1_Missense_Mutation_p.L1390F|SBNO1_ENST00000267176.4_Missense_Mutation_p.L1389F	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1390							ATP binding|DNA binding|hydrolase activity	p.L1389F(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATGCGTTGCTCAAGTTGGTGA	0.428000													8	257					0	0	0.004482	0	0
PCLO	27445	broad.mit.edu	37	7	82475906	82475906	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:82475906T>A	ENST00000423517.2	-	12	14145	c.13808A>T	c.(13807-13809)gAa>gTa	p.E4603V	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.E4603V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4491	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						CTCATGAAGTTCCAGATGCTG	0.338000													19	17					0	0	0.001523	0	0
LNPEP	4012	broad.mit.edu	37	5	96320825	96320825	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:96320825C>G	ENST00000231368.5	+	3	1594	c.902C>G	c.(901-903)tCt>tGt	p.S301C	LNPEP_ENST00000395770.3_Missense_Mutation_p.S287C	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	301				S -> L (in Ref. 6; AA sequence).	cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GCAGCAAGATCTGCTTTTCCT	0.403000													22	87					0	0	0.003330	0	0
KRT27	342574	broad.mit.edu	37	17	38938473	38938473	+	Silent	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr17:38938473G>C	ENST00000301656.3	-	1	313	c.273C>G	c.(271-273)ctC>ctG	p.L91L		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	91	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGCGGTCGTTGAGGTTCTGCA	0.572000													33	63					0	0	0.002836	0	0
DNMT3A	1788	broad.mit.edu	37	2	25463307	25463307	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:25463307C>T	ENST00000264709.3	-	19	2523	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	DNMT3A_ENST00000380746.4_Missense_Mutation_p.R540Q|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R506Q|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R729Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	729					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)					AAAGAAGAGCCGGCCAGTGCC	0.612000			"""Mis, F, N, S"""		AML								30	28					0	0	0.007291	0	0
ZNF91	7644	broad.mit.edu	37	19	23542840	23542840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:23542840G>A	ENST00000300619.7	-	4	3146	c.2941C>T	c.(2941-2943)Ctt>Ttt	p.L981F	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.L949F	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	981						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTTCAGTAAGAGTTGAAGAT	0.378000													5	48					0	0	0.000602	0	0
CPED1	79974	broad.mit.edu	37	7	120764400	120764400	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:120764400G>C	ENST00000310396.5	+	8	1401	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	CPED1_ENST00000423795.1_Missense_Mutation_p.E92Q|CPED1_ENST00000450913.2_Missense_Mutation_p.E312Q	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AACATTTTTTGAGACATTCCT	0.393000													16	53					0	0	0.004990	0	0
CFH	3075	broad.mit.edu	37	1	196709904	196709904	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:196709904C>T	ENST00000367429.4	+	18	3178	c.2938C>T	c.(2938-2940)Cac>Tac	p.H980Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	980	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAAATGGTCTCACCCTCCATC	0.338000													8	113					0	0	0.006214	0	0
AGRN	375790	broad.mit.edu	37	1	978800	978800	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:978800C>T	ENST00000379370.2	+	8	1616	c.1566C>T	c.(1564-1566)ctC>ctT	p.L522L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	522	Kazal-like 5.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCTGTACCCTCGGGCGGGAGA	0.682000													5	16					0	0	0.001168	0	0
KIF13B	23303	broad.mit.edu	37	8	28974435	28974435	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:28974435G>A	ENST00000524189.1	-	31	3788	c.3750C>T	c.(3748-3750)atC>atT	p.I1250I	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1250					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCACGCGCACGATCAGGAACA	0.602000													26	63					0	0	0.004656	0	0
DLEC1	9940	broad.mit.edu	37	3	38081086	38081086	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:38081086G>A	ENST00000308059.6	+	1	391	c.370G>A	c.(370-372)Gag>Aag	p.E124K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E124K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E124K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	124					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCGCGGCAGCGAGAATGAGCG	0.647000													23	39					0	0	0.002299	0	0
KLHL12	59349	broad.mit.edu	37	1	202863774	202863774	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:202863774C>G	ENST00000367261.3	-	9	1457	c.1239G>C	c.(1237-1239)caG>caC	p.Q413H	KLHL12_ENST00000435533.3_Missense_Mutation_p.Q451H|KLHL12_ENST00000367259.1_Missense_Mutation_p.Q146H	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	413	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)			CCCGGGCTGTCTGCATATCTC	0.527000													28	262					0	0	0.006320	0	0
COL25A1	84570	broad.mit.edu	37	4	109895698	109895698	+	Silent	SNP	T	T	C	rs142155024	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:109895698T>C	ENST00000399132.1	-	7	986	c.456A>G	c.(454-456)aaA>aaG	p.K152K	COL25A1_ENST00000399127.1_Silent_p.K152K|COL25A1_ENST00000399126.1_Silent_p.K152K	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	152	Collagen-like 1.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.K152K(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCTTATCGCCTTTTGGACCAG	0.318000													3	121					0	0	0.004672	0	0
CHIT1	1118	broad.mit.edu	37	1	203186208	203186208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:203186208G>A	ENST00000367229.1	-	11	1244	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	CHIT1_ENST00000535569.1_Nonsense_Mutation_p.Q395*|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.Q385*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	404					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCAGAGGGCTGACCTGGTTTT	0.567000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	122					0	0	0.001368	0	0
SNX25	83891	broad.mit.edu	37	4	186231908	186231908	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:186231908C>A	ENST00000504273.1	+	7	1084	c.790C>A	c.(790-792)Cct>Act	p.P264T	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.P264T			Q9H3E2	SNX25_HUMAN	sorting nexin 25	264					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CCTGGGAGGCCCTGCCTATGA	0.512000													14	80					4.14922e-12	8.68534e-12	0.004007	1	0
OSGIN2	734	broad.mit.edu	37	8	90937360	90937360	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:90937360C>T	ENST00000451899.2	+	6	1510	c.1250C>T	c.(1249-1251)tCt>tTt	p.S417F	OSGIN2_ENST00000297438.2_Missense_Mutation_p.S373F	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	373					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)			AATCTTTTATCTGATTATACC	0.358000													14	152					0	0	0.008871	0	0
AHDC1	27245	broad.mit.edu	37	1	27875878	27875878	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:27875878C>T	ENST00000374011.2	-	6	3717	c.2749G>A	c.(2749-2751)Gcg>Acg	p.A917T	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.A917T	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	917							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCTGGCGCGCGGACAGGACA	0.697000													16	43					0	0	0.004007	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68925156	68925156	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:68925156C>G	ENST00000356291.2	-	9	1105	c.1046G>C	c.(1045-1047)aGa>aCa	p.R349T	RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	349	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GGTTTCCACTCTGGCTTGCCG	0.358000													12	21					0	0	0.000978	0	0
TLN2	83660	broad.mit.edu	37	15	63128147	63128147	+	Missense_Mutation	SNP	C	C	G	rs140723056	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr15:63128147C>G	ENST00000561311.1	+	56	7479	c.7249C>G	c.(7249-7251)Cag>Gag	p.Q2417E	TLN2_ENST00000306829.6_Missense_Mutation_p.Q2417E|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2417	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGCCTCCGTTCAGGGACACGC	0.647000													5	37					0	0	0.000602	0	0
GABPA	2551	broad.mit.edu	37	21	27130510	27130510	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr21:27130510G>A	ENST00000354828.3	+	6	1270	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	GABPA_ENST00000400075.3_Missense_Mutation_p.R248Q	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	248	PNT.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.R248Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GAACTTCTCCGAAAATGTATG	0.328000													13	28					0	0	0.001855	0	0
PADI2	11240	broad.mit.edu	37	1	17397918	17397918	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:17397918C>T	ENST00000375486.4	-	14	1681	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	PADI2_ENST00000444885.2_Missense_Mutation_p.E424K|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	540					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TACAGGTTCTCCTGCACAAGG	0.597000													15	39					0	0	0.007413	0	0
CCT3	7203	broad.mit.edu	37	1	156290786	156290786	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:156290786C>G	ENST00000295688.3	-	7	733	c.453G>C	c.(451-453)atG>atC	p.M151I	CCT3_ENST00000368261.3_Missense_Mutation_p.M106I|CCT3_ENST00000368259.2_Missense_Mutation_p.M113I|CCT3_ENST00000472765.2_Missense_Mutation_p.M106I	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	151					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TGTTCAGCATCATATCACTGT	0.423000													8	109					0	0	0.003080	0	0
TBX1	6899	broad.mit.edu	37	22	19766783	19766783	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr22:19766783G>A	ENST00000329705.7	+	9	1179	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	350			T -> M (in dbSNP:rs4819522).		embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				AAGCTGAGACGTCTAGGAACA	0.547000													23	137					0	0	0.002780	0	0
GJB2	2706	broad.mit.edu	37	13	20763385	20763385	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr13:20763385C>T	ENST00000382844.1	-	1	534	c.336G>A	c.(334-336)aaG>aaA	p.K112K	GJB2_ENST00000382848.4_Silent_p.K112K			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	112				K -> N (in Ref. 4; AAY25170).	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TAAATTCACTCTTTATCTCCC	0.532000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	57					0	0	0.007413	0	0
SCN8A	6334	broad.mit.edu	37	12	52201213	52201213	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr12:52201213G>C	ENST00000354534.5	+	27	6121	c.5943G>C	c.(5941-5943)taG>taC	p.*1981Y	SCN8A_ENST00000545061.1_Nonstop_Mutation_p.*1940Y	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	0					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCAAGTGTTAGAGGAGAACAA	0.393000													2	4					0	0	0.004672	0	0
VEPH1	79674	broad.mit.edu	37	3	157146114	157146114	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:157146114G>A	ENST00000362010.2	-	5	1000	c.693C>T	c.(691-693)ctC>ctT	p.L231L	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392832.2_Silent_p.L231L|VEPH1_ENST00000392833.2_Silent_p.L231L|VEPH1_ENST00000543418.1_Silent_p.L231L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	231						plasma membrane		p.L231L(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTTTTACCTCGAGTTGTTTTT	0.438000													6	69					0	0	0.001984	0	0
IL10RA	3587	broad.mit.edu	37	11	117864051	117864051	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr11:117864051G>T	ENST00000227752.3	+	4	583	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Missense_Mutation_p.D6Y|IL10RA_ENST00000541785.1_Missense_Mutation_p.D135Y	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	155						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCCCGCAAATGACACATATGA	0.527000													4	38					0.00024832	0.000497404	0.000248	1	0
HPGD	3248	broad.mit.edu	37	4	175414436	175414436	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:175414436C>T	ENST00000296522.6	-	6	974	c.528G>A	c.(526-528)gtG>gtA	p.V176V	HPGD_ENST00000296521.7_Intron|HPGD_ENST00000541923.1_Silent_p.V55V|HPGD_ENST00000422112.2_Silent_p.V108V|HPGD_ENST00000510901.1_Silent_p.V55V|HPGD_ENST00000542498.1_Intron	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	176					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	CATTCAGTCTCACACCACTGT	0.363000													9	45					0	0	0.008291	0	0
ERCC4	2072	broad.mit.edu	37	16	14020442	14020442	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr16:14020442G>A	ENST00000311895.7	+	3	422	c.413G>A	c.(412-414)aGa>aAa	p.R138K	ERCC4_ENST00000575156.1_Missense_Mutation_p.R138K	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	138					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGAGCCCACAGAATAATCGAG	0.388000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	98					0	0	0.001984	0	0
FBXO42	54455	broad.mit.edu	37	1	16641805	16641805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:16641805C>G	ENST00000375592.3	-	2	325	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	37										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TCCTCAGCCTCCAATACTGGG	0.498000													5	52					0	0	0.000602	0	0
IL6R	3570	broad.mit.edu	37	1	154437818	154437818	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:154437818T>G	ENST00000368485.3	+	10	1806	c.1369T>G	c.(1369-1371)Tat>Gat	p.Y457D	IL6R_ENST00000344086.4_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	457					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)			ACGGAGCCCTTATGACATCAG	0.577000													7	128					0	0	0.004482	0	0
HACL1	26061	broad.mit.edu	37	3	15609959	15609959	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:15609959C>T	ENST00000321169.5	-	13	1597	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	HACL1_ENST00000451445.2_Silent_p.Q328Q|HACL1_ENST00000457447.2_Silent_p.Q350Q|HACL1_ENST00000435217.2_Silent_p.Q169Q|HACL1_ENST00000456194.2_Silent_p.Q383Q	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	410	Thiamine pyrophosphate binding.				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GAAGGTAGTTCTGAAGCACAG	0.368000													5	40					0	0	0.000602	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664680	38664680	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:38664680C>G	ENST00000336949.6	+	2	1426	c.481C>G	c.(481-483)Ctc>Gtc	p.L161V	MID1IP1_ENST00000378474.3_Missense_Mutation_p.L161V|MID1IP1_ENST00000457894.1_Missense_Mutation_p.L161V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	161					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						GCTCTCGAAACTCACGCGCAA	0.627000													11	7					0	0	0.008291	0	0
COL8A1	1295	broad.mit.edu	37	3	99513335	99513335	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:99513335G>A	ENST00000261037.3	+	5	970	c.590G>A	c.(589-591)gGa>gAa	p.G197E	COL8A1_ENST00000273342.4_Missense_Mutation_p.G197E	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	197	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGACCACAAGGACCTCCAGGG	0.587000													5	58					0	0	0.000602	0	0
MBD5	55777	broad.mit.edu	37	2	149227843	149227843	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:149227843C>T	ENST00000407073.1	+	9	3328	c.2331C>T	c.(2329-2331)aaC>aaT	p.N777N	MBD5_ENST00000404807.1_Silent_p.N777N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	777						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGTCCCCAACCACCATCTTG	0.463000													21	63					0	0	0.008871	0	0
KIAA1755	85449	broad.mit.edu	37	20	36850870	36850870	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr20:36850870C>G	ENST00000279024.4	-	10	2669	c.2398G>C	c.(2398-2400)Gac>Cac	p.D800H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	800										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGGCTGAAGTCCAGCCTGCTG	0.642000											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	95					0	0	0.008291	0	0
KIAA0391	9692	broad.mit.edu	37	14	35593231	35593231	+	Silent	SNP	A	A	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr14:35593231A>C	ENST00000557565.1	+	2	1161	c.780A>C	c.(778-780)gtA>gtC	p.V260V	KIAA0391_ENST00000250377.7_Silent_p.V165V|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.V260V|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Silent_p.V165V|KIAA0391_ENST00000603544.1_Silent_p.V260V|KIAA0391_ENST00000321130.10_Silent_p.V260V			O15091	MRRP3_HUMAN	KIAA0391	260					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		ATCAAGATGTAAACACAGCTT	0.343000													9	20					0	0	0.004482	0	0
FRY	10129	broad.mit.edu	37	13	32869543	32869543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr13:32869543C>A	ENST00000380250.3	+	61	9484	c.8988C>A	c.(8986-8988)taC>taA	p.Y2996*	FRY_ENST00000542859.1_Nonsense_Mutation_p.Y366*|FRY_ENST00000380217.1_Nonsense_Mutation_p.Y178*	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2996					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)		CCCAGAGTTACCGAGTCCTCA	0.567000													20	46					1.2644e-06	2.58845e-06	0.001523	1	0
MYH7	4625	broad.mit.edu	37	14	23884302	23884302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr14:23884302C>G	ENST00000355349.3	-	37	5623	c.5461G>C	c.(5461-5463)Gag>Cag	p.E1821Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1821					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)		TTCTCCAGCTCCCGCACCCGC	0.627000													16	109					0	0	0.006122	0	0
NEB	4703	broad.mit.edu	37	2	152499769	152499769	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:152499769C>G	ENST00000397345.3	-	58	8257	c.8055G>C	c.(8053-8055)ttG>ttC	p.L2685F	NEB_ENST00000172853.10_Missense_Mutation_p.L2685F|NEB_ENST00000604864.1_Missense_Mutation_p.L2685F|NEB_ENST00000427231.2_Missense_Mutation_p.L2685F|NEB_ENST00000603639.1_Missense_Mutation_p.L2685F|NEB_ENST00000409198.1_Missense_Mutation_p.L2685F	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2685					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)		CATGGTCACTCAAAATCTGGG	0.413000													3	109					0	0	0.000248	0	0
TTC21A	199223	broad.mit.edu	37	3	39156090	39156090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:39156090G>A	ENST00000301819.6	+	6	750	c.573G>A	c.(571-573)atG>atA	p.M191I	TTC21A_ENST00000431162.2_Missense_Mutation_p.M191I|TTC21A_ENST00000440121.1_Missense_Mutation_p.M150I	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	191							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTACTTCATGATGCAGCAGA	0.557000													62	57					0	0	0.003610	0	0
SAMD10	140700	broad.mit.edu	37	20	62608706	62608706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr20:62608706C>T	ENST00000369886.3	-	2	319	c.145G>A	c.(145-147)Gag>Aag	p.E49K	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron|SAMD10_ENST00000498830.1_5'UTR	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	49										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGATGCTCTCAGCTGACACC	0.652000													9	92					0	0	0.006214	0	0
KIAA0100	9703	broad.mit.edu	37	17	26965108	26965108	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr17:26965108C>G	ENST00000528896.2	-	14	1591	c.1517G>C	c.(1516-1518)aGc>aCc	p.S506T	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S363T|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S363T	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	506						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGGTTATAGCTACCCTAGAG	0.498000													12	54					0	0	0.001855	0	0
AKT1	207	broad.mit.edu	37	14	105246455	105246455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr14:105246455C>T	ENST00000554581.1	-	2	1625	c.145G>A	c.(145-147)Gag>Aag	p.E49K	AKT1_ENST00000554848.1_Missense_Mutation_p.E49K|AKT1_ENST00000555528.1_Missense_Mutation_p.E49K|AKT1_ENST00000349310.3_Missense_Mutation_p.E49K|AKT1_ENST00000407796.2_Missense_Mutation_p.E49K|AKT1_ENST00000402615.2_Missense_Mutation_p.E49K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	49	PH.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E49K(1)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AGGGGAGCCTCACGTTGGTCC	0.587000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								11	13					0	0	0.002450	0	0
IFI27L1	122509	broad.mit.edu	37	14	94567115	94567115	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr14:94567115G>C	ENST00000556381.1	+	4	391	c.56G>C	c.(55-57)gGa>gCa	p.G19A	IFI27L1_ENST00000555523.1_Missense_Mutation_p.G20A|IFI27L1_ENST00000557066.1_Missense_Mutation_p.G20A|IFI27L1_ENST00000393115.3_Missense_Mutation_p.G20A|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.G20A|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R42S|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000557218.1_Missense_Mutation_p.G20A			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	20						integral to membrane				lung(2)	2						GTGGTCGGAGGAGGTGAGTCT	0.542000													14	62					0	0	0.002450	0	0
PRLR	5618	broad.mit.edu	37	5	35086419	35086419	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:35086419C>G	ENST00000382002.5	-	4	520	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	PRLR_ENST00000348262.3_Missense_Mutation_p.E32Q|PRLR_ENST00000542609.1_Missense_Mutation_p.E32Q|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.E32Q|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.E32Q|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000231423.3_Missense_Mutation_p.E32Q	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	32	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTAAAGATCTCAGGTTTTCCA	0.448000													16	55					0	0	0.006122	0	0
PREP	5550	broad.mit.edu	37	6	105816838	105816838	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:105816838C>A	ENST00000369110.3	-	6	849	c.657G>T	c.(655-657)caG>caT	p.Q219H		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	219					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TATCTTCTGACTGATCGGTTC	0.418000													23	33					5.35356e-11	1.11347e-10	0.002780	1	0
BOC	91653	broad.mit.edu	37	3	112998239	112998239	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:112998239A>T	ENST00000495514.1	+	12	2661	c.1957A>T	c.(1957-1959)Att>Ttt	p.I653F	BOC_ENST00000273395.4_Missense_Mutation_p.I654F|BOC_ENST00000355385.3_Missense_Mutation_p.I653F			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	653	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGAGACTGGATTCTGGCCAC	0.602000													9	47					0	0	0.004482	0	0
MBTPS1	8720	broad.mit.edu	37	16	84108251	84108251	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr16:84108251T>A	ENST00000343411.3	-	12	2039	c.1544A>T	c.(1543-1545)aAt>aTt	p.N515I	MBTPS1_ENST00000569770.1_Intron	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	515					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						GATGGTGACATTAACAACTGT	0.478000													16	27					0	0	0.006122	0	0
PAWR	5074	broad.mit.edu	37	12	79988212	79988212	+	Splice_Site	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr12:79988212T>A	ENST00000328827.4	-	6	1205	c.831_splice	c.e6-1	p.E278_splice		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	278					actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TCTTACTACTTCCTGGTAGAT	0.294000													8	16					0	0	0.003080	0	0
BRCA2	675	broad.mit.edu	37	13	32950881	32950881	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr13:32950881G>A	ENST00000544455.1	+	21	8934	c.8707G>A	c.(8707-8709)Gag>Aag	p.E2903K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E2903K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2903					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGATGGTGCAGAGCTTTATGA	0.388000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			5	26					0	0	0.000602	0	0
ATP2A2	488	broad.mit.edu	37	12	110764234	110764234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr12:110764234C>T	ENST00000395494.2	+	6	1066	c.503C>T	c.(502-504)cCt>cTt	p.P168L	ATP2A2_ENST00000308664.6_Missense_Mutation_p.P195L|ATP2A2_ENST00000539276.2_Missense_Mutation_p.P195L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	195					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GATCCCGTCCCTGACCCACGA	0.423000													4	25					0	0	0.000602	0	0
NCOA6	23054	broad.mit.edu	37	20	33329653	33329653	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr20:33329653T>C	ENST00000374796.2	-	12	6977	c.4407A>G	c.(4405-4407)aaA>aaG	p.K1469K	NCOA6_ENST00000359003.2_Silent_p.K1469K			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1469					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CACTGGGAAGTTTGTTAGGAT	0.448000													31	140					0	0	0.002836	0	0
LPAL2	80350	broad.mit.edu	37	6	160899548	160899548	+	RNA	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:160899548G>C	ENST00000335388.5	-	0	1336					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		ACCTGCTTCAGAATGAGCCTC	0.453000													9	47					0	0	0.006214	0	0
SPARC	6678	broad.mit.edu	37	5	151052775	151052775	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:151052775T>C	ENST00000231061.4	-	4	436	c.123A>G	c.(121-123)gtA>gtG	p.V41V		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	41	Asp/Glu-rich (acidic; binds calcium).				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	CTCCCACAGATACCTGGAATT	0.522000													34	67					0	0	0.003755	0	0
ABCA13	154664	broad.mit.edu	37	7	48318187	48318187	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:48318187C>G	ENST00000435803.1	+	18	7420	c.7396C>G	c.(7396-7398)Cta>Gta	p.L2466V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2466					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						TTCATTCCCTCTAAGAAACAG	0.358000													12	129					0	0	0.001368	0	0
CNKSR2	22866	broad.mit.edu	37	X	21545080	21545080	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:21545080C>T	ENST00000425654.2	+	10	1533	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	CNKSR2_ENST00000279451.4_Silent_p.L351L|CNKSR2_ENST00000543067.1_Silent_p.L302L|CNKSR2_ENST00000379510.3_Silent_p.L351L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	351	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TCCAGGATCTCTACATTCCCC	0.483000													16	137					0	0	0.004007	0	0
JPH3	57338	broad.mit.edu	37	16	87678544	87678544	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr16:87678544C>T	ENST00000284262.2	+	2	1305	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	355					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CATCCCCCTGCGGGCCAGCAA	0.652000													10	24					0	0	0.006214	0	0
HK3	3101	broad.mit.edu	37	5	176308467	176308467	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:176308467G>A	ENST00000292432.5	-	18	2554	c.2463C>T	c.(2461-2463)gaC>gaT	p.D821D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	821	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATCAGGGCGTCATCTGAGG	0.652000													9	17					0	0	0.006214	0	0
GRM1	2911	broad.mit.edu	37	6	146720758	146720758	+	Silent	SNP	C	C	T	rs148042148		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:146720758C>T	ENST00000392299.2	+	8	3053	c.2583C>T	c.(2581-2583)ggC>ggT	p.G861G	GRM1_ENST00000507907.1_Silent_p.G861G|GRM1_ENST00000492807.2_Silent_p.G861G|GRM1_ENST00000282753.1_Silent_p.G861G|GRM1_ENST00000361719.2_Silent_p.G861G|GRM1_ENST00000355289.4_Silent_p.G861G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	861					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)	TGCATGTTGGCGATGGCAAGC	0.522000													12	25					0	0	0.001368	0	0
PLCG1	5335	broad.mit.edu	37	20	39791883	39791883	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr20:39791883G>C	ENST00000373272.2	+	8	1162	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	PLCG1_ENST00000244007.3_Missense_Mutation_p.E253Q|PLCG1_ENST00000373271.1_Missense_Mutation_p.E253Q	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	253					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTCCCTTCCTGAGTTCCAGCA	0.607000													20	111					0	0	0.002299	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18775924	18775924	+	Silent	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr17:18775924G>T	ENST00000268835.2	+	5	484	c.201G>T	c.(199-201)gtG>gtT	p.V67V	PRPSAP2_ENST00000419071.2_Intron|PRPSAP2_ENST00000536323.1_5'UTR|PRPSAP2_ENST00000542013.1_Silent_p.V67V	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	67					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						AAGAGTCTGTGAGGGGAAAAG	0.348000													41	168					1.57019e-19	3.36249e-19	0.007835	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72500862	72500862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr10:72500862C>T	ENST00000373208.1	+	12	1877	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.S623F	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	623	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AAGCGCAACTCCTACTATGTG	0.617000													13	33					0	0	0.001855	0	0
GBX2	2637	broad.mit.edu	37	2	237075004	237075004	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:237075004C>A	ENST00000551105.1	-	3	674	c.637G>T	c.(637-639)Gct>Tct	p.A213S	GBX2_ENST00000306318.4_Silent_p.S200S|GBX2_ENST00000465889.1_5'UTR			P52951	GBX2_HUMAN	gastrulation brain homeobox 2	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGCTCTCCAGCGAGAAGCTCT	0.602000													39	79					2.75727e-19	5.86596e-19	0.004878	1	0
TRIM67	440730	broad.mit.edu	37	1	231335933	231335933	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:231335933C>T	ENST00000444294.3	+	4	2161	c.1303C>T	c.(1303-1305)Cgt>Tgt	p.R435C	TRIM67_ENST00000449018.3_Missense_Mutation_p.R373C|TRIM67_ENST00000366653.5_Missense_Mutation_p.R435C|TRIM67_ENST00000366652.2_Missense_Mutation_p.R435C	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	435						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ATTGAAGCTGCGTCAGTCCAC	0.532000													14	219					0	0	0.004007	0	0
DIDO1	11083	broad.mit.edu	37	20	61541176	61541176	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr20:61541176C>G	ENST00000266070.4	-	4	1361	c.1036G>C	c.(1036-1038)Gat>Cat	p.D346H	DIDO1_ENST00000354665.4_Missense_Mutation_p.D346H|DIDO1_ENST00000395335.2_Missense_Mutation_p.D346H|DIDO1_ENST00000266071.5_Missense_Mutation_p.D346H|DIDO1_ENST00000370371.4_Missense_Mutation_p.D346H|DIDO1_ENST00000395340.1_Missense_Mutation_p.D346H|DIDO1_ENST00000395343.1_Missense_Mutation_p.D346H|DIDO1_ENST00000370368.1_Missense_Mutation_p.D346H|DIDO1_ENST00000370366.1_Missense_Mutation_p.D346H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	346					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCGGTGCCATCAGCATCTCCA	0.458000													7	170					0	0	0.001984	0	0
CCDC181	57821	broad.mit.edu	37	1	169391472	169391472	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:169391472G>C	ENST00000545005.1	-	4	704	c.197C>G	c.(196-198)tCt>tGt	p.S66C	CCDC181_ENST00000367806.3_Missense_Mutation_p.S66C|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.S66C					coiled-coil domain containing 181																		GTCAGGATCAGAATGCCGTTT	0.378000													8	84					0	0	0.004482	0	0
PMS1	5378	broad.mit.edu	37	2	190719576	190719576	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:190719576T>C	ENST00000441310.2	+	9	1811	c.1578T>C	c.(1576-1578)tgT>tgC	p.C526C	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Silent_p.C350C|PMS1_ENST00000409823.3_Silent_p.C487C|PMS1_ENST00000418224.3_Silent_p.C350C|PMS1_ENST00000447232.2_Silent_p.C526C	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	526					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GTTTACCATGTAAAGTAAGTA	0.294000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					12	30					0	0	0.001855	0	0
LRGUK	136332	broad.mit.edu	37	7	133812362	133812362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:133812362G>A	ENST00000285928.2	+	1	311	c.242G>A	c.(241-243)gGc>gAc	p.G81D	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	81							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAGGACCAGGGCGAGGGCGAG	0.612000													7	40					0	0	0.003080	0	0
PDS5A	23244	broad.mit.edu	37	4	39843630	39843630	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:39843630C>G	ENST00000303538.8	-	31	4134	c.3595G>C	c.(3595-3597)Gag>Cag	p.E1199Q		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1199					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACAGGGTTCTCTTCATTTTCA	0.343000													4	41					0	0	0.000602	0	0
LINC00922	283867	broad.mit.edu	37	16	65319272	65319272	+	RNA	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr16:65319272G>C	ENST00000569736.1	-	0	889				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						CCACCTAGCTGTCTGTCTTCA	0.448000													3	36					0	0	0.004672	0	0
MAST1	22983	broad.mit.edu	37	19	12969220	12969220	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:12969220C>T	ENST00000251472.4	+	11	1161	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	MAST1_ENST00000591495.1_Silent_p.F370F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	374	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAATGACTTCGATACCATCA	0.617000													21	131					0	0	0.002299	0	0
SHISA3	152573	broad.mit.edu	37	4	42403210	42403210	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:42403210C>G	ENST00000319234.4	+	2	677	c.459C>G	c.(457-459)acC>acG	p.T153T		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	153					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TGACCTCCACCAGCCCCAGGG	0.647000													30	108					0	0	0.002096	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984115	41984115	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:41984115C>T	ENST00000333141.5	+	1	403	c.306C>T	c.(304-306)atC>atT	p.I102I		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	102										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						ACGGCATCATCAGCCTGCGAA	0.557000													17	42					0	0	0.004007	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502856	90502856	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr9:90502856A>G	ENST00000325643.5	+	4	3520	c.3454A>G	c.(3454-3456)Acc>Gcc	p.T1152A		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCCTCTGTCCACCTCCCAGAG	0.642000													8	32					0	0	0.004482	0	0
NDUFB4	4710	broad.mit.edu	37	3	120315376	120315376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:120315376G>A	ENST00000485064.1	+	1	202	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	NDUFB4_ENST00000184266.2_Missense_Mutation_p.R57Q|NDUFB4_ENST00000492739.1_Missense_Mutation_p.R57Q	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	57					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	CCCAACCGCCGAGGGCTCATC	0.632000													4	17					0	0	0.000248	0	0
FSCN3	29999	broad.mit.edu	37	7	127240328	127240328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:127240328G>A	ENST00000265825.5	+	6	1591	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	FSCN3_ENST00000420086.2_Missense_Mutation_p.R322Q	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	458						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTTCTGTATCGAGCTTCAGGG	0.537000													6	59					0	0	0.001168	0	0
C8G	733	broad.mit.edu	37	9	139840948	139840948	+	Silent	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr9:139840948G>C	ENST00000224181.3	+	5	546	c.486G>C	c.(484-486)ctG>ctC	p.L162L	C8G_ENST00000465773.1_3'UTR	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	162					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		ACTCGGTCCTGAGTGGGTTTG	0.657000													3	19					0	0	0.004672	0	0
OBSCN	84033	broad.mit.edu	37	1	228432256	228432256	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:228432256C>T	ENST00000570156.2	+	12	3815	c.3741C>T	c.(3739-3741)ttC>ttT	p.F1247F	OBSCN_ENST00000284548.11_Silent_p.F1155F|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.F1155F|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	197	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTCTCCTTCCACCTGCACA	0.542000													11	196					0	0	0.000978	0	0
ENTPD7	57089	broad.mit.edu	37	10	101451214	101451214	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr10:101451214G>A	ENST00000370489.4	+	8	960	c.782G>A	c.(781-783)gGa>gAa	p.G261E		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	261						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GATATGGGAGGAGCCTCTCTC	0.453000													7	37					0	0	0.001984	0	0
MYBL1	4603	broad.mit.edu	37	8	67514655	67514655	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:67514655C>T	ENST00000522677.3	-	2	534	c.124G>A	c.(124-126)Gag>Aag	p.E42K	MYBL1_ENST00000517885.1_Missense_Mutation_p.E42K|MYBL1_ENST00000524176.2_Missense_Mutation_p.E42K	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	42	HTH myb-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATAATTACCTCGTCCCTTGTC	0.408000													16	45					0	0	0.004990	0	0
QRFPR	84109	broad.mit.edu	37	4	122250496	122250496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:122250496C>A	ENST00000394427.2	-	6	1680	c.1269G>T	c.(1267-1269)gaG>gaT	p.E423D	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	423						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AAGGAGAATTCTCAGCCAGTT	0.368000													23	55					1.10513e-12	2.32829e-12	0.002299	1	0
ZNF266	10781	broad.mit.edu	37	19	9524534	9524534	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:9524534T>G	ENST00000592904.1	-	5	3143	c.1067A>C	c.(1066-1068)gAt>gCt	p.D356A	ZNF266_ENST00000592292.1_Missense_Mutation_p.D356A|ZNF266_ENST00000588221.1_Missense_Mutation_p.D356A|ZNF266_ENST00000590306.1_Missense_Mutation_p.D356A|ZNF266_ENST00000361451.2_Missense_Mutation_p.D356A|ZNF266_ENST00000588933.1_Missense_Mutation_p.D356A|ZNF266_ENST00000361151.1_Missense_Mutation_p.D356A			Q14584	ZN266_HUMAN	zinc finger protein 266	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTCCCACAATCCTTACATTT	0.413000													18	46					0	0	0.006122	0	0
SLC39A4	55630	broad.mit.edu	37	8	145640760	145640760	+	Missense_Mutation	SNP	G	G	T	rs141890870	byFrequency	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:145640760G>T	ENST00000276833.5	-	2	746	c.443C>A	c.(442-444)gCg>gAg	p.A148E	SLC39A4_ENST00000301305.3_Missense_Mutation_p.A173E	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	173						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	p.A173E(1)|p.A148E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CGGAGCCCCCGCCCCCACCGC	0.682000													7	12					2.7689e-08	5.68628e-08	0.001984	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077573	32077573	+	RNA	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr16:32077573C>T	ENST00000354689.6	+	0	188				RP11-1166P10.6_ENST00000566806.1_RNA																							TACGCAGACTCTGTGAAAGGC	0.517000													70	226					0	0	0.003610	0	0
ZNF233	353355	broad.mit.edu	37	19	44777511	44777511	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:44777511C>A	ENST00000391958.2	+	5	825	c.698C>A	c.(697-699)gCt>gAt	p.A233D	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.A215D|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AGAGAGAAAGCTTTTAGCCAC	0.368000													9	26					0.000274275	0.000547709	0.004482	1	0
BOD1L1	259282	broad.mit.edu	37	4	13603813	13603813	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:13603813T>A	ENST00000040738.5	-	10	4846	c.4711A>T	c.(4711-4713)Aat>Tat	p.N1571Y		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1571							DNA binding										AGAGGATTATTTCTGGAATGT	0.468000													5	19					0	0	0.000602	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951984	46951984	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr21:46951984G>A	ENST00000311124.4	-	3	420	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	SLC19A1_ENST00000567670.1_Silent_p.L90L|SLC19A1_ENST00000485649.2_Silent_p.L50L|SLC19A1_ENST00000380010.4_Silent_p.L90L	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	90					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GTGTAGCGCAGGTAGTCGGTG	0.672000													16	28					0	0	0.006122	0	0
LRP1B	53353	broad.mit.edu	37	2	141260622	141260622	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:141260622G>C	ENST00000389484.3	-	54	9543	c.8572C>G	c.(8572-8574)Ctt>Gtt	p.L2858V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2858	LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATTTAGAAGACACCGCCCA	0.388000										TSP Lung(27;0.18)			20	52					0	0	0.008871	0	0
PAIP1	10605	broad.mit.edu	37	5	43539127	43539127	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:43539127C>T	ENST00000306846.3	-	5	977	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	PAIP1_ENST00000338972.4_Missense_Mutation_p.E137K|PAIP1_ENST00000436644.2_Missense_Mutation_p.E170K|PAIP1_ENST00000514514.1_Missense_Mutation_p.E170K	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	249	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ACTTCATATTCAGTCCGACAT	0.333000													21	54					0	0	0.001882	0	0
PARP12	64761	broad.mit.edu	37	7	139727113	139727113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:139727113G>A	ENST00000263549.3	-	10	2464	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	531	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCTGTACTCGCTCAATCTTC	0.537000													5	42					0	0	0.000602	0	0
PSMD4	5710	broad.mit.edu	37	1	151237665	151237665	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:151237665C>G	ENST00000368884.3	+	5	473	c.393C>G	c.(391-393)ctC>ctG	p.L131L	PSMD4_ENST00000368881.4_Silent_p.L131L	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	131	VWFA.				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|DNA repair|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 transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CTAAACGCCTCAAGAAGGAGA	0.443000													3	47					0	0	0.004672	0	0
LYZL1	84569	broad.mit.edu	37	10	29599073	29599073	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr10:29599073C>T	ENST00000375500.3	+	4	528	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	111					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				ATGCAATTATCTGTGCCAGGA	0.433000													12	30					0	0	0.001855	0	0
ZC3H18	124245	broad.mit.edu	37	16	88664701	88664701	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr16:88664701C>T	ENST00000301011.5	+	4	1004	c.804C>T	c.(802-804)ctC>ctT	p.L268L	ZC3H18_ENST00000452588.2_Silent_p.L292L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	268	Pro-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCCGCCTCTCGGACCTCACC	0.537000													6	62					0	0	0.003080	0	0
ZIC4	84107	broad.mit.edu	37	3	147114240	147114240	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:147114240G>T	ENST00000383075.3	-	3	599	c.87C>A	c.(85-87)caC>caA	p.H29Q	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.H67Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.H29Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.H29Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.H79Q	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	29						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGGGGCCATGGTGTCCAGAGC	0.697000													11	42					5.50884e-06	1.11721e-05	0.001368	1	0
GPR155	151556	broad.mit.edu	37	2	175346518	175346518	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:175346518C>G	ENST00000392552.2	-	2	405	c.167G>C	c.(166-168)gGc>gCc	p.G56A	GPR155_ENST00000295500.4_Missense_Mutation_p.G56A|GPR155_ENST00000392551.2_Missense_Mutation_p.G56A	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	56					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGCTATGTAGCCACAAAGGAC	0.418000													12	34					0	0	0.000978	0	0
PRDM14	63978	broad.mit.edu	37	8	70964454	70964454	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:70964454G>C	ENST00000276594.2	-	8	1775	c.1574C>G	c.(1573-1575)tCt>tGt	p.S525C		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGATGCAAAAGATTTACCACA	0.517000													19	121					0	0	0.001523	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61292481	61292481	+	Missense_Mutation	SNP	G	G	A	rs138628669		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr20:61292481G>A	ENST00000217159.1	+	5	1280	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.E359K	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	359					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CAGCCGTGGGGAGGCGAGCAA	0.617000													30	67					0	0	0.004878	0	0
SYNE1	23345	broad.mit.edu	37	6	152737810	152737810	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:152737810G>A	ENST00000367255.5	-	41	6363	c.5762C>T	c.(5761-5763)tCt>tTt	p.S1921F	SYNE1_ENST00000265368.4_Missense_Mutation_p.S1921F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1928F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1958F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1928F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1921					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)		GACGGCAGCAGATTCTAATGC	0.453000										HNSCC(10;0.0054)			21	46					0	0	0.008871	0	0
MUC17	140453	broad.mit.edu	37	7	100676630	100676630	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:100676630G>C	ENST00000306151.4	+	3	1997	c.1933G>C	c.(1933-1935)Gag>Cag	p.E645Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	645	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													115	469					0	0	0.003610	0	0
CFHR2	3080	broad.mit.edu	37	1	196920100	196920100	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:196920100G>A	ENST00000367415.4	+	3	486	c.372G>A	c.(370-372)gaG>gaA	p.E124E	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Silent_p.E124E	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	124	Sushi 2.					extracellular region		p.E124E(1)		large_intestine(2)|ovary(1)|skin(3)	6						AAAACAATGAGAACAACATTT	0.393000													13	120					0	0	0.002450	0	0
KIRREL2	84063	broad.mit.edu	37	19	36355599	36355599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:36355599G>A	ENST00000360202.5	+	14	1973	c.1775G>A	c.(1774-1776)gGg>gAg	p.G592E	KIRREL2_ENST00000262625.7_Missense_Mutation_p.G592E|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G572E|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G557E|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.G542E	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	592					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGGAGAAAGGGACTCTGGAG	0.597000													26	16					0	0	0.002096	0	0
MYBPC1	4604	broad.mit.edu	37	12	102036248	102036248	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr12:102036248G>A	ENST00000549145.1	+	10	781	c.681G>A	c.(679-681)ctG>ctA	p.L227L	MYBPC1_ENST00000541119.1_Silent_p.L202L|MYBPC1_ENST00000551300.1_Silent_p.L115L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.L214L|MYBPC1_ENST00000547509.1_Silent_p.L200L|MYBPC1_ENST00000547405.1_Silent_p.L188L|MYBPC1_ENST00000545503.2_Silent_p.L214L|MYBPC1_ENST00000441232.1_Silent_p.L214L|MYBPC1_ENST00000392934.3_Silent_p.L201L|MYBPC1_ENST00000361685.2_Silent_p.L239L|MYBPC1_ENST00000361466.2_Silent_p.L239L|MYBPC1_ENST00000536007.1_Silent_p.L195L|MYBPC1_ENST00000360610.2_Silent_p.L214L|MYBPC1_ENST00000553190.1_Silent_p.L214L|MYBPC1_ENST00000452455.2_Silent_p.L214L			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	214					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						GGGAGTTGCTGAAGAACGCGA	0.562000													15	43					0	0	0.004007	0	0
SFRP4	6424	broad.mit.edu	37	7	37956080	37956080	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:37956080G>A	ENST00000436072.2	-	1	437	c.60C>T	c.(58-60)cgC>cgT	p.R20R	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	20	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGGGCGCGCCGCGCACGCCCA	0.682000													19	32					0	0	0.006122	0	0
ATP2B3	492	broad.mit.edu	37	X	152845713	152845713	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:152845713C>G	ENST00000263519.4	+	20	3746	c.3620C>G	c.(3619-3621)tCc>tGc	p.S1207C	ATP2B3_ENST00000349466.2_Missense_Mutation_p.S1207C|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000370181.2_3'UTR	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1207					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTTTCCTCCAGTCCCGGG	0.592000													3	75					0	0	0.004672	0	0
SFMBT1	51460	broad.mit.edu	37	3	52947576	52947576	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:52947576G>C	ENST00000394752.3	-	15	1920	c.1538C>G	c.(1537-1539)tCa>tGa	p.S513*	SFMBT1_ENST00000296295.6_Nonsense_Mutation_p.S513*|SFMBT1_ENST00000394750.1_Nonsense_Mutation_p.S513*|SFMBT1_ENST00000358080.2_Nonsense_Mutation_p.S513*	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	513					regulation of transcription, DNA-dependent	nucleus		p.S513*(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATATGGCCCTGAGAAGCAACG	0.403000													13	11					0	0	0.001855	0	0
ZNF442	79973	broad.mit.edu	37	19	12461237	12461237	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:12461237G>C	ENST00000242804.4	-	6	1744	c.1162C>G	c.(1162-1164)Cat>Gat	p.H388D	ZNF442_ENST00000438182.1_Missense_Mutation_p.H319D	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CTTGAGTGATGAGATAACGCT	0.428000													9	168					0	0	0.008291	0	0
GTF3C3	9330	broad.mit.edu	37	2	197641315	197641315	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:197641315C>T	ENST00000263956.3	-	11	1518	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	477						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCATAGCTTTCAGCAGCTCGC	0.438000													5	87					0	0	0.000602	0	0
SEL1L	6400	broad.mit.edu	37	14	81972553	81972553	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr14:81972553C>T	ENST00000336735.4	-	4	489	c.373G>A	c.(373-375)Gag>Aag	p.E125K	SEL1L_ENST00000555824.1_Missense_Mutation_p.E125K	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	125	Fibronectin type-II.|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGGCAGGGCTCCCCATGTGCT	0.438000													12	39					0	0	0.000978	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591223	56591223	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:56591223A>T	ENST00000338222.5	+	1	1198	c.917A>T	c.(916-918)cAg>cTg	p.Q306L		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	306						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GAAGGTACGCAGCCTTCCCGC	0.562000													11	3					0	0	0.000978	0	0
ABCC5	10057	broad.mit.edu	37	3	183707045	183707045	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:183707045T>C	ENST00000334444.6	-	3	496	c.256A>G	c.(256-258)Agt>Ggt	p.S86G	ABCC5_ENST00000382494.2_Missense_Mutation_p.S86G|ABCC5_ENST00000265586.6_Missense_Mutation_p.S86G|ABCC5_ENST00000392579.2_Missense_Mutation_p.S86G|ABCC5_ENST00000427120.2_Missense_Mutation_p.S86G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	86						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCAGAGCACTCAAGCCATGA	0.478000													28	17					0	0	0.007291	0	0
CCDC180	100499483	broad.mit.edu	37	9	100136864	100136864	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr9:100136864G>A	ENST00000375202.2	+	49	6124	c.4772G>A	c.(4771-4773)cGa>cAa	p.R1591Q	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.R1536Q|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1591Q					coiled-coil domain containing 180																		ATGCTCATACGAAGGAAACTC	0.507000													4	22					0	0	0.000248	0	0
CRYBA4	1413	broad.mit.edu	37	22	27026341	27026341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr22:27026341C>T	ENST00000354760.3	+	6	516	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	161	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CCGAGGATTTCAGTATGTGCT	0.537000													12	35					0	0	0.000978	0	0
NBEAL2	23218	broad.mit.edu	37	3	47033992	47033992	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:47033992G>A	ENST00000450053.3	+	10	1239	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	NBEAL2_ENST00000292309.5_Missense_Mutation_p.E354K|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	354							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)		GGCGCCCCCCGAGGGGGACAG	0.637000													5	4					0	0	0.000602	0	0
POLR2A	5430	broad.mit.edu	37	17	7399540	7399540	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr17:7399540G>C	ENST00000322644.6	+	3	637	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	POLR2A_ENST00000572844.1_Missense_Mutation_p.E80Q	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	80					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|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 binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAACATGACAGAGTGTCCTGG	0.537000													6	48					0	0	0.001168	0	0
PER3	8863	broad.mit.edu	37	1	7896001	7896001	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:7896001G>C	ENST00000377532.3	+	19	3618	c.3394G>C	c.(3394-3396)Gag>Cag	p.E1132Q	PER3_ENST00000361923.2_Missense_Mutation_p.E1123Q			P56645	PER3_HUMAN	period circadian clock 3	1123	CRY binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTACCTGAGAGGTAAGA	0.413000													4	39					0	0	0.000248	0	0
FCRLA	84824	broad.mit.edu	37	1	161681748	161681748	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:161681748G>C	ENST00000367959.2	+	5	835	c.593G>C	c.(592-594)aGa>aCa	p.R198T	FCRLA_ENST00000367953.3_Missense_Mutation_p.R181T|FCRLA_ENST00000367957.2_Missense_Mutation_p.R52T|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.R86T|FCRLA_ENST00000294796.4_Missense_Mutation_p.R41T|FCRLA_ENST00000540926.1_Missense_Mutation_p.R181T|FCRLA_ENST00000540521.1_Missense_Mutation_p.R58T|FCRLA_ENST00000546024.1_Missense_Mutation_p.R103T|FCRLA_ENST00000236938.6_Missense_Mutation_p.R192T|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	175	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCAATTCTCAGAGCTGTACCC	0.527000													5	443					0	0	0.000602	0	0
MOS	4342	broad.mit.edu	37	8	57025647	57025647	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:57025647G>A	ENST00000311923.1	-	1	894	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	299	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCAGCGGAGAGGGACGGGCGC	0.687000													9	31					0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113364752	113364752	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:113364752C>A	ENST00000297405.5	-	39	6392	c.6148G>T	c.(6148-6150)Gat>Tat	p.D2050Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.D1946Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D2010Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1980Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2050	Sushi 11.					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						GGACAGGAATCCAAACCAATT	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	70					2.17888e-05	4.39148e-05	0.006214	1	0
NAP1L3	4675	broad.mit.edu	37	X	92927456	92927456	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:92927456C>G	ENST00000373079.3	-	1	1111	c.848G>C	c.(847-849)aGa>aCa	p.R283T	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	283					nucleosome assembly	chromatin assembly complex		p.R283I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTCAGGAACTCTTTTATGAGT	0.453000													3	87					0	0	0.004672	0	0
OBSCN	84033	broad.mit.edu	37	1	228556503	228556503	+	Silent	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:228556503A>G	ENST00000570156.2	+	100	22793	c.22719A>G	c.(22717-22719)ccA>ccG	p.P7573P	OBSCN_ENST00000422127.1_Silent_p.P6616P|OBSCN_ENST00000366707.4_Silent_p.P4250P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6616	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACATCACCCCAGCAGAGCTGC	0.567000													158	98					0	0	0.003610	0	0
OR2L3	391192	broad.mit.edu	37	1	248224496	248224496	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:248224496G>T	ENST00000359959.3	+	1	513	c.513G>T	c.(511-513)agG>agT	p.R171S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCCAATCCAGGGCCATCAATC	0.473000													32	219					1.74807e-11	3.64741e-11	0.002096	1	0
TGM6	343641	broad.mit.edu	37	20	2375175	2375175	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr20:2375175G>A	ENST00000202625.2	+	2	146	c.85G>A	c.(85-87)Gag>Aag	p.E29K	TGM6_ENST00000381423.1_Missense_Mutation_p.E29K|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	29					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCCCTGCCCTGAGCTGGTGGT	0.627000													4	30					0	0	0.000248	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203557	140203557	+	Missense_Mutation	SNP	C	C	T	rs140039635		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:140203557C>T	ENST00000529859.1	+	1	2197	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	PCDHA5_ENST00000529619.1_Missense_Mutation_p.R733W|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R733W|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTGCACACGGGGCAAGCC	0.662000													15	33					0	0	0.002450	0	0
TMCO4	255104	broad.mit.edu	37	1	20107215	20107215	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:20107215G>C	ENST00000294543.6	-	4	278	c.37C>G	c.(37-39)Cag>Gag	p.Q13E	TMCO4_ENST00000375127.1_Missense_Mutation_p.Q13E|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q13E	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	13						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGAGGCTGCTGAGGCAGCCTC	0.607000													7	29					0	0	0.001984	0	0
RNF208	727800	broad.mit.edu	37	9	140115259	140115259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr9:140115259C>T	ENST00000392827.1	-	2	574	c.406G>A	c.(406-408)Gcg>Acg	p.A136T	RNF208_ENST00000391553.1_Missense_Mutation_p.A136T			Q9H0X6	RN208_HUMAN	ring finger protein 208	136							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCGCCTGCCGCCGCCGAAGAA	0.672000													23	11					0	0	0.003954	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789449	140789449	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:140789449G>A	ENST00000520790.1	+	1	1680	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCACCGCGGGTGCTGT	0.662000													6	22					0	0	0.003080	0	0
KDM6B	23135	broad.mit.edu	37	17	7752018	7752018	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr17:7752018C>G	ENST00000254846.5	+	11	2801	c.2412C>G	c.(2410-2412)ctC>ctG	p.L804L	KDM6B_ENST00000448097.2_Silent_p.L804L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	804	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L804L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCAGCCTGCTCAAATCCTTGG	0.642000													6	52					0	0	0.001168	0	0
DDX24	57062	broad.mit.edu	37	14	94521392	94521392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr14:94521392C>T	ENST00000330836.5	-	7	2259	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	DDX24_ENST00000555054.1_Missense_Mutation_p.E667K|DDX24_ENST00000544005.1_Missense_Mutation_p.E460K	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	710	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)		GGGATATCCTCATCTTTCTTG	0.463000													32	149					0	0	0.002445	0	0
ZNF638	27332	broad.mit.edu	37	2	71653623	71653623	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:71653623G>T	ENST00000409544.1	+	24	5254	c.4624G>T	c.(4624-4626)Gtt>Ttt	p.V1542F	ZNF638_ENST00000355812.3_Missense_Mutation_p.L1133F|ZNF638_ENST00000264447.4_Missense_Mutation_p.V1542F|ZNF638_ENST00000409407.1_Missense_Mutation_p.V482F	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1542					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGATGAATTTGTTACTGTGGA	0.348000													18	20					1.56452e-12	3.2855e-12	0.007413	1	0
RELT	84957	broad.mit.edu	37	11	73106303	73106303	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr11:73106303G>A	ENST00000064780.2	+	10	1479	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L	RELT_ENST00000393580.2_Silent_p.L406L	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	406						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CAAAGTGGCTGAAGCCCCCAG	0.642000													5	105					0	0	0.000602	0	0
MYO5A	4644	broad.mit.edu	37	15	52656782	52656782	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr15:52656782T>A	ENST00000399231.3	-	24	3521	c.3278A>T	c.(3277-3279)gAt>gTt	p.D1093V	MYO5A_ENST00000356338.6_Missense_Mutation_p.D1093V|MYO5A_ENST00000553916.1_Missense_Mutation_p.D1093V|MYO5A_ENST00000358212.6_Missense_Mutation_p.D1093V|MYO5A_ENST00000399233.2_Missense_Mutation_p.D1093V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1093					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTGAGGTCATCATATCTTTC	0.338000													25	54					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179395647	179395647	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:179395647G>T	ENST00000589042.1	-	358	105919	c.105695C>A	c.(105694-105696)cCa>cAa	p.P35232Q	TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P26359Q|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P33591Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26292Q|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26167Q|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P32664Q|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33591							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)			TTTGACTCTTGGTGGTGATGT	0.478000													13	141					4.36969e-10	9.05945e-10	0.001855	1	0
NDST4	64579	broad.mit.edu	37	4	115769459	115769459	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:115769459G>C	ENST00000264363.2	-	9	2530	c.1852C>G	c.(1852-1854)Cct>Gct	p.P618A		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	618	Heparan sulfate N-sulfotransferase 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)		ATGATTGAAGGATGCATAAGA	0.308000													4	60					0	0	0.000602	0	0
UTP20	27340	broad.mit.edu	37	12	101779782	101779782	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr12:101779782A>G	ENST00000261637.4	+	62	8413	c.8239A>G	c.(8239-8241)Atg>Gtg	p.M2747V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2747	Nuclear localization signal.|Nucleolar localization signal.				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						CAAGAAAAAAATGAAGAAACA	0.308000													23	51					0	0	0.001882	0	0
DNAH8	1769	broad.mit.edu	37	6	38821072	38821072	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:38821072C>G	ENST00000359357.3	+	39	5285	c.5031C>G	c.(5029-5031)atC>atG	p.I1677M	DNAH8_ENST00000441566.1_Missense_Mutation_p.I1677M|DNAH8_ENST00000449981.2_Missense_Mutation_p.I1894M					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTATCAAATCAGTGATTCAG	0.368000													19	32					0	0	0.008871	0	0
CRB1	23418	broad.mit.edu	37	1	197298069	197298069	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:197298069G>A	ENST00000367400.3	+	2	723	c.588G>A	c.(586-588)aaG>aaA	p.K196K	CRB1_ENST00000535699.1_Silent_p.K127K|CRB1_ENST00000538660.1_Silent_p.K196K|CRB1_ENST00000367399.2_Silent_p.K196K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	196	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATCCCTGCAAGAACGAGGCTA	0.448000													4	68					0	0	0.000248	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573801	136573801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:136573801C>T	ENST00000446465.2	+	2	1127	c.499C>T	c.(499-501)Cga>Tga	p.R167*	SLC35G2_ENST00000393079.3_Nonsense_Mutation_p.R167*|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	167	DUF6 1.					Golgi apparatus|integral to membrane											ATACAGATTACGACTCTTCTT	0.408000													34	160					0	0	0.003755	0	0
SYMPK	8189	broad.mit.edu	37	19	46328447	46328447	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:46328447C>G	ENST00000245934.7	-	18	2716	c.2472G>C	c.(2470-2472)ctG>ctC	p.L824L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	824					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.L824L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAATGACCCTCAGCACCGTCC	0.647000													5	66					0	0	0.001984	0	0
ANO4	121601	broad.mit.edu	37	12	101510564	101510564	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr12:101510564T>C	ENST00000392979.3	+	24	2814	c.2453T>C	c.(2452-2454)cTt>cCt	p.L818P	ANO4_ENST00000299222.9_Missense_Mutation_p.L373P|ANO4_ENST00000392977.3_Missense_Mutation_p.L853P|ANO4_ENST00000550015.1_Missense_Mutation_p.L373P	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	853						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGGACTCCTCTTAAGTACTGC	0.542000										HNSCC(74;0.22)			4	81					0	0	0.000602	0	0
CD320	51293	broad.mit.edu	37	19	8367860	8367860	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:8367860G>A	ENST00000301458.5	-	4	571	c.507C>T	c.(505-507)acC>acT	p.T169T	CD320_ENST00000537716.2_Silent_p.T127T	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	169					regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						GGATCTCATTGGTTCCTGCAA	0.607000													4	15					0	0	0.000602	0	0
FAT1	2195	broad.mit.edu	37	4	187630110	187630110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:187630110G>C	ENST00000441802.2	-	2	1081	c.872C>G	c.(871-873)tCt>tGt	p.S291C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	291					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATGCTTAAAGATGCTATGTC	0.488000										HNSCC(5;0.00058)			20	173					0	0	0.008871	0	0
ABCA8	10351	broad.mit.edu	37	17	66890418	66890418	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr17:66890418T>C	ENST00000269080.2	-	21	2949	c.2812A>G	c.(2812-2814)Aga>Gga	p.R938G	ABCA8_ENST00000430352.2_Missense_Mutation_p.R978G|ABCA8_ENST00000586539.1_Missense_Mutation_p.R978G	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	938						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAATTCAATCTTTTGGCATTG	0.313000													7	14					0	0	0.003080	0	0
CLASRP	11129	broad.mit.edu	37	19	45563652	45563652	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:45563652T>A	ENST00000544944.2	+	8	1408	c.716T>A	c.(715-717)cTc>cAc	p.L239H	CLASRP_ENST00000221455.3_Missense_Mutation_p.L239H|CLASRP_ENST00000391953.4_Missense_Mutation_p.L177H			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	239					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TATAGGATGCTCCGGAAAGAC	0.572000													8	28					0	0	0.004482	0	0
ASMTL	8623	broad.mit.edu	37	X	1554652	1554652	+	Splice_Site	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:1554652C>T	ENST00000534940.1	-	4	325		c.e4-1		ASMTL_ENST00000416733.2_Intron|ASMTL_ENST00000381317.3_Splice_Site|ASMTL_ENST00000381333.4_Splice_Site	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like						melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				CCCCGACTGTCTGTGAGAGGA	0.587000													11	69					0	0	0.000978	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603487	138603487	+	Silent	SNP	G	G	A	rs79934303	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:138603487G>A	ENST00000440172.1	-	2	933	c.885C>T	c.(883-885)gaC>gaT	p.D295D	KIAA1549_ENST00000422774.1_Silent_p.D295D|KIAA1549_ENST00000242365.4_Silent_p.D245D	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	295						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TAGTAATGCCGTCGCCTAACG	0.537000			O	BRAF	pilocytic astrocytoma								16	54					0	0	0.003163	0	0
DDN	23109	broad.mit.edu	37	12	49392252	49392252	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr12:49392252C>G	ENST00000421952.2	-	2	428	c.407G>C	c.(406-408)cGa>cCa	p.R136P	RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	136						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GGGGCTCCGTCGGGCCCCACC	0.741000													6	13					0	0	0.004482	0	0
NEURL4	84461	broad.mit.edu	37	17	7230539	7230539	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr17:7230539C>T	ENST00000399464.2	-	3	753	c.738G>A	c.(736-738)gtG>gtA	p.V246V	NEURL4_ENST00000315614.7_Silent_p.V246V|NEURL4_ENST00000570460.1_Intron	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGCTGGGGACACCATGAAGG	0.627000													8	16					0	0	0.003080	0	0
C9orf96	169436	broad.mit.edu	37	9	136253248	136253248	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr9:136253248C>G	ENST00000371957.3	+	5	419	c.312C>G	c.(310-312)ctC>ctG	p.L104L	C9orf96_ENST00000371955.1_5'UTR|C9orf96_ENST00000426926.2_Silent_p.L104L	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	104	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTGTACCTCTGCCTGGTGA	0.572000													12	55					0	0	0.002450	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52115506	52115506	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:52115506G>A	ENST00000222107.4	-	9	1772	c.1634C>T	c.(1633-1635)tCg>tTg	p.S545L	SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S545L|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S545L|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S545L|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S545L			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	545					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGATCTCCGAGTACTCCGT	0.537000													16	80					0	0	0.004007	0	0
ILF2	3608	broad.mit.edu	37	1	153636573	153636573	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:153636573C>G	ENST00000361891.4	-	10	815	c.690G>C	c.(688-690)ttG>ttC	p.L230F	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	230	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACGAATCCTCAAGTCCTTCA	0.398000													6	33					0	0	0.001984	0	0
TPR	7175	broad.mit.edu	37	1	186312565	186312565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:186312565C>T	ENST00000367478.3	-	27	3939	c.3643G>A	c.(3643-3645)Gag>Aag	p.E1215K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1215					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAGCCACCTCAAACCTAGTT	0.353000			T	NTRK1	papillary thyroid								20	99					0	0	0.001523	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853278	70853278	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:70853278C>G	ENST00000333538.5	+	3	1114	c.480C>G	c.(478-480)ttC>ttG	p.F160L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	160	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TATTCATCTTCGTGAACGAGG	0.527000													6	67					0	0	0.001168	0	0
BYSL	705	broad.mit.edu	37	6	41900357	41900357	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:41900357C>T	ENST00000230340.4	+	7	1602	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	409					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCTGCAGCCCCATCCACAGC	0.587000													12	64					0	0	0.001368	0	0
SYT1	6857	broad.mit.edu	37	12	79689943	79689943	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr12:79689943A>T	ENST00000261205.4	+	7	1226	c.569A>T	c.(568-570)aAg>aTg	p.K190M	SYT1_ENST00000393240.3_Missense_Mutation_p.K190M|SYT1_ENST00000457153.2_Missense_Mutation_p.K187M|SYT1_ENST00000552744.1_Missense_Mutation_p.K190M	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	190	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTACCTGATAAGAAGAAGAAA	0.418000													20	42					0	0	0.002780	0	0
ADCK2	90956	broad.mit.edu	37	7	140373236	140373236	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:140373236G>T	ENST00000072869.4	+	1	284	c.106G>T	c.(106-108)Gat>Tat	p.D36Y	ADCK2_ENST00000476491.1_Missense_Mutation_p.D36Y	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	36						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GTGCCCTCGCGATGCCAGGCT	0.677000													6	12					0.00116845	0.00231203	0.001168	1	0
TM9SF4	9777	broad.mit.edu	37	20	30729430	30729430	+	Silent	SNP	C	C	T	rs117023270	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr20:30729430C>T	ENST00000217315.5	+	4	649	c.309C>T	c.(307-309)ctC>ctT	p.L103L	TM9SF4_ENST00000398022.2_Silent_p.L120L			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	120						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGAGCCGACTCGTGGCCGAGC	0.577000													9	137					0	0	0.004482	0	0
FKBPL	63943	broad.mit.edu	37	6	32097359	32097359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:32097359C>T	ENST00000375156.3	-	2	469	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	67					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										ACCAGTTTTTCAGCTCCTTGA	0.512000													11	66					0	0	0.008291	0	0
YARS2	51067	broad.mit.edu	37	12	32908286	32908286	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr12:32908286C>A	ENST00000324868.8	-	1	550	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	175					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TGGTACCAGGCCGAGTTGTCC	0.657000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	22					0.000566183	0.00112717	0.004990	1	0
TCEAL4	79921	broad.mit.edu	37	X	102842017	102842017	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:102842017C>T	ENST00000472745.1	+	3	966	c.414C>T	c.(412-414)ctC>ctT	p.L138L	TCEAL4_ENST00000472484.1_Silent_p.L138L|TCEAL4_ENST00000415568.2_Silent_p.L138L|TCEAL4_ENST00000494801.1_Silent_p.L138L|TCEAL4_ENST00000468024.1_Silent_p.L138L|TCEAL4_ENST00000372629.4_Silent_p.L281L			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						CTCATTACCTCAAGGAGTATA	0.438000													11	117					0	0	0.001368	0	0
OR10C1	442194	broad.mit.edu	37	6	29407891	29407891	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:29407891C>T	ENST00000444197.2	+	1	809	c.99C>T	c.(97-99)atC>atT	p.I33I	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCTCACTATCTACCTGCTGA	0.557000													31	59					0	0	0.008361	0	0
SPTA1	6708	broad.mit.edu	37	1	158641861	158641861	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:158641861C>G	ENST00000368148.3	-	11	1656	c.1476G>C	c.(1474-1476)atG>atC	p.M492I	SPTA1_ENST00000368147.3_Missense_Mutation_p.M492I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	492					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)					CTTGTCTACTCATCCAACTGT	0.498000													27	116					0	0	0.002096	0	0
PI4KA	5297	broad.mit.edu	37	22	21157491	21157491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr22:21157491G>A	ENST00000255882.6	-	13	1665	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	PI4KA_ENST00000572273.1_Nonsense_Mutation_p.Q469*	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	469					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTGTGGTACTGACTGTGGTAC	0.547000													14	158					0	0	0.001855	0	0
ARR3	407	broad.mit.edu	37	X	69489243	69489243	+	Splice_Site	SNP	A	A	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:69489243A>C	ENST00000374495.3	+	2	106	c.8_splice	c.e2+1	p.K3_splice	ARR3_ENST00000307959.8_Splice_Site_p.K3_splice			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	3					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AACATGTCCAAGTAAGAATTC	0.423000													11	5					0	0	0.000978	0	0
MOS	4342	broad.mit.edu	37	8	57025648	57025648	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:57025648G>A	ENST00000311923.1	-	1	893	c.894C>T	c.(892-894)tcC>tcT	p.S298S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	298	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CAGCGGAGAGGGACGGGCGCA	0.682000													9	33					0	0	0.004482	0	0
PADI4	23569	broad.mit.edu	37	1	17662722	17662722	+	Splice_Site	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:17662722G>A	ENST00000375448.4	+	4	434		c.e4+1		AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV						chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAAAGATCAGGTACCACTCAC	0.547000											OREG0013149	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	26					0	0	0.003080	0	0
PGAM4	441531	broad.mit.edu	37	X	77224532	77224532	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chrX:77224532C>G	ENST00000458128.1	-	1	603	c.604G>C	c.(604-606)Gaa>Caa	p.E202Q	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	202					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						ATAGCCTCTTCAGAGAGACCC	0.512000													4	179					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179593094	179593094	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:179593094T>G	ENST00000589042.1	-	67	19681	c.19457A>C	c.(19456-19458)aAa>aCa	p.K6486T	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K6169T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K5242T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6169	Ig-like 46.						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)			TTTGGTTAATTTTTTGGTGAA	0.358000													6	13					0	0	0.001984	0	0
PLCE1	51196	broad.mit.edu	37	10	95892130	95892130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr10:95892130C>T	ENST00000260766.3	+	3	2040	c.1406C>T	c.(1405-1407)tCt>tTt	p.S469F	PLCE1_ENST00000371375.1_Missense_Mutation_p.S161F|PLCE1_ENST00000371380.2_Missense_Mutation_p.S469F|PLCE1_ENST00000371385.3_Missense_Mutation_p.S161F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	469			S -> T (in dbSNP:rs17508082).		activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCACCGGTTCTCTCCTAGAA	0.478000													7	94					0	0	0.001984	0	0
PDE10A	10846	broad.mit.edu	37	6	165792780	165792780	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:165792780T>A	ENST00000366882.1	-	19	2012	c.1858A>T	c.(1858-1860)Atc>Ttc	p.I620F	PDE10A_ENST00000539869.2_Missense_Mutation_p.I630F|PDE10A_ENST00000354448.4_Missense_Mutation_p.I620F			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	620					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTGGCAATGATGGCTTTGCGG	0.413000													7	41					0	0	0.003080	0	0
MEIS1	4211	broad.mit.edu	37	2	66775128	66775128	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:66775128C>T	ENST00000488550.1	+	9	1241	c.942C>T	c.(940-942)ctC>ctT	p.L314L	MEIS1_ENST00000398506.2_Silent_p.L312L|MEIS1_ENST00000560281.2_Silent_p.L314L|MEIS1_ENST00000495021.2_Silent_p.L249L|MEIS1_ENST00000407092.2_Silent_p.L314L|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000272369.9_Silent_p.L314L|MEIS1_ENST00000444274.2_3'UTR			O00470	MEIS1_HUMAN	Meis homeobox 1	314							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ACACGGGACTCACCATCCTTC	0.423000													13	31					0	0	0.001855	0	0
NRG2	9542	broad.mit.edu	37	5	139231379	139231379	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:139231379T>A	ENST00000541337.1	-	7	1613	c.1384A>T	c.(1384-1386)Agc>Tgc	p.S462C	NRG2_ENST00000340391.3_Missense_Mutation_p.S325C|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000361474.1_Missense_Mutation_p.S528C|NRG2_ENST00000545385.1_Missense_Mutation_p.S530C|NRG2_ENST00000289409.4_Missense_Mutation_p.S522C|NRG2_ENST00000358522.3_Missense_Mutation_p.S530C|NRG2_ENST00000289422.7_Missense_Mutation_p.S536C|NRG2_ENST00000394770.1_3'UTR	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	528					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGTCAGGCTCTCAGAACGT	0.632000													7	32					0	0	0.004482	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87258202	87258202	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:87258202G>C	ENST00000338056.3	+	1	474	c.63G>C	c.(61-63)aaG>aaC	p.K21N	ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.K21N|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.K21N	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	21										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GAGGCGGCAAGAAAAGCCTGA	0.716000													4	11					0	0	0.000248	0	0
ANKRD37	353322	broad.mit.edu	37	4	186318369	186318369	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:186318369G>A	ENST00000335174.4	+	2	533	c.93G>A	c.(91-93)aaG>aaA	p.K31K	ANKRD37_ENST00000507479.1_3'UTR	NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	31						cytoplasm|nucleus				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		ATCCCTGCAAGCAGTCGCCTG	0.592000													14	73					0	0	0.001855	0	0
TDRD3	81550	broad.mit.edu	37	13	61068665	61068665	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr13:61068665T>G	ENST00000196169.3	+	8	1323	c.535T>G	c.(535-537)Tca>Gca	p.S179A	TDRD3_ENST00000377881.2_Missense_Mutation_p.S179A|TDRD3_ENST00000377894.2_Missense_Mutation_p.S179A|TDRD3_ENST00000535286.1_Missense_Mutation_p.S272A	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	179					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GAAAGAAAAGTCAACCAAATC	0.363000													6	36					0	0	0.001168	0	0
CD80	941	broad.mit.edu	37	3	119248769	119248769	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:119248769A>T	ENST00000264246.3	-	5	1078	c.716T>A	c.(715-717)tTt>tAt	p.F239Y	CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Intron|CD80_ENST00000478182.1_Missense_Mutation_p.F239Y	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	239					interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	GTTATCAGGAAAATGCTCTTG	0.408000													5	61					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179669350	179669350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:179669350G>A	ENST00000589042.1	-	2	244	c.20C>T	c.(19-21)aCg>aTg	p.T7M	TTN_ENST00000360870.5_Missense_Mutation_p.T7M|TTN_ENST00000342175.6_Missense_Mutation_p.T7M|TTN_ENST00000591111.1_Missense_Mutation_p.T7M|TTN_ENST00000359218.5_Missense_Mutation_p.T7M|TTN_ENST00000460472.2_Missense_Mutation_p.T7M|TTN_ENST00000342992.6_Missense_Mutation_p.T7M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7	Ig-like 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T7M(5)		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)			CTGCGTAAACGTCGGTGCTTG	0.453000													14	34					0	0	0.003163	0	0
APOB	338	broad.mit.edu	37	2	21224885	21224885	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:21224885G>A	ENST00000233242.1	-	29	13536	c.13409C>T	c.(13408-13410)tCt>tTt	p.S4470F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4470					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGCAGTGGCAGAAAGCTCTGC	0.383000													12	71					0	0	0.001368	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433131	140433131	+	Silent	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:140433131C>A	ENST00000306549.3	+	1	2153	c.2076C>A	c.(2074-2076)gtC>gtA	p.V692V		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		692					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATATTTGGTCATTTCTCTGG	0.388000													22	82					1.96895e-08	4.05628e-08	0.002780	1	0
FAM213A	84293	broad.mit.edu	37	10	82187156	82187156	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr10:82187156C>G	ENST00000372181.1	+	4	950	c.480C>G	c.(478-480)taC>taG	p.Y160*	FAM213A_ENST00000372187.5_Nonsense_Mutation_p.Y160*|FAM213A_ENST00000372188.1_Nonsense_Mutation_p.Y160*|FAM213A_ENST00000372185.1_Nonsense_Mutation_p.Y149*	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	160						extracellular region											GAGTGTGGTACAACTTCTTCC	0.488000													4	61					0	0	0.000602	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746180	140746180	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:140746180G>A	ENST00000518069.1	+	1	2283	c.2283G>A	c.(2281-2283)gcG>gcA	p.A761A	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCACCGCGGACTCGAGGA	0.592000													13	136					0	0	0.001368	0	0
FRK	2444	broad.mit.edu	37	6	116265528	116265528	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr6:116265528G>A	ENST00000606080.1	-	6	1465	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	FRK_ENST00000538210.1_Missense_Mutation_p.S198F	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	340	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GGCCATTCCAGAGGCAACCTG	0.418000													10	40					0	0	0.008291	0	0
KEL	3792	broad.mit.edu	37	7	142643301	142643301	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:142643301C>T	ENST00000355265.2	-	11	1781	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	436					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TACAGCACTTCGGGTGCTCGG	0.577000													8	11					0	0	0.003080	0	0
GRM2	2912	broad.mit.edu	37	3	51749374	51749374	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:51749374G>C	ENST00000395052.3	+	4	1819	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	529					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCAGCCCTATGAGTACCGATT	0.612000													6	15					0	0	0.001168	0	0
MLH1	4292	broad.mit.edu	37	3	37048548	37048548	+	Silent	SNP	G	G	A	rs63750638		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:37048548G>A	ENST00000231790.2	+	5	663	c.447G>A	c.(445-447)caG>caA	p.Q149Q	MLH1_ENST00000435176.1_Silent_p.Q51Q|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000536378.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	149					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AAGGGACCCAGATCACGGTAA	0.343000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				22	15					0	0	0.002780	0	0
ATP10A	57194	broad.mit.edu	37	15	25963462	25963462	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr15:25963462C>A	ENST00000356865.6	-	8	1559	c.1448G>T	c.(1447-1449)aGc>aTc	p.S483I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	483					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGCCGATGCTGCCGCGCTG	0.711000													11	8					6.40141e-05	0.000128621	0.000978	1	0
LIN9	286826	broad.mit.edu	37	1	226474137	226474137	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:226474137C>G	ENST00000328205.5	-	6	1014	c.469G>C	c.(469-471)Gac>Cac	p.D157H	LIN9_ENST00000366801.1_Missense_Mutation_p.D106H|LIN9_ENST00000481685.1_Missense_Mutation_p.D122H	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	141	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ACACAGAAGTCATTATCACCT	0.318000													24	63					0	0	0.003954	0	0
ZFAT	57623	broad.mit.edu	37	8	135612760	135612760	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:135612760C>T	ENST00000520727.1	-	8	2657	c.2358G>A	c.(2356-2358)ctG>ctA	p.L786L	ZFAT_ENST00000523399.1_Silent_p.L736L|ZFAT_ENST00000429442.2_Silent_p.L786L|ZFAT_ENST00000377838.3_Silent_p.L798L|ZFAT_ENST00000520214.1_Silent_p.L786L|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520356.1_Silent_p.L786L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGGGACACTTCAGCAAGATGT	0.438000													26	109					0	0	0.007291	0	0
TMEM57	55219	broad.mit.edu	37	1	25810760	25810760	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:25810760G>A	ENST00000374343.4	+	7	1487	c.1308G>A	c.(1306-1308)caG>caA	p.Q436Q	TMEM57_ENST00000399763.3_Silent_p.Q78Q|TMEM57_ENST00000399766.3_Silent_p.Q209Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	436						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGCTGCAGAACAAGTACG	0.572000													15	40					0	0	0.004990	0	0
CDH9	1007	broad.mit.edu	37	5	26881405	26881405	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr5:26881405G>A	ENST00000231021.4	-	12	2382	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	737					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATAGGCATACGTTGCCAGCGA	0.423000													29	72					0	0	0.006320	0	0
AGTR1	185	broad.mit.edu	37	3	148459339	148459339	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:148459339G>A	ENST00000542281.1	+	4	963	c.517G>A	c.(517-519)Gag>Aag	p.E173K	AGTR1_ENST00000349243.3_Missense_Mutation_p.E173K|AGTR1_ENST00000418473.2_Missense_Mutation_p.E173K|AGTR1_ENST00000475347.1_Missense_Mutation_p.E173K|AGTR1_ENST00000497524.1_Missense_Mutation_p.E173K|AGTR1_ENST00000402260.1_Missense_Mutation_p.E173K|AGTR1_ENST00000474935.1_Missense_Mutation_p.E173K|AGTR1_ENST00000404754.2_Missense_Mutation_p.E173K|AGTR1_ENST00000461609.1_Missense_Mutation_p.E173K	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	173					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATTTTTCATTGAGAACACCAA	0.443000													25	85					0	0	0.003954	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414936	121414936	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr3:121414936T>C	ENST00000393667.3	-	13	4544	c.4434A>G	c.(4432-4434)gaA>gaG	p.E1478E	GOLGB1_ENST00000340645.5_Silent_p.E1473E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1473					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCTACTTTCTTCTCCAATCT	0.393000													42	223					0	0	0.008740	0	0
CLTCL1	8218	broad.mit.edu	37	22	19183840	19183840	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr22:19183840G>A	ENST00000263200.10	-	26	4200	c.4128C>T	c.(4126-4128)ctC>ctT	p.L1376L	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Silent_p.L1376L|CLTCL1_ENST00000353891.5_Silent_p.L1376L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1376	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCATCATGGTGAGCACAGCAT	0.567000			T	?	ALCL								8	72					0	0	0.004482	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113223541	113223541	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr13:113223541G>A	ENST00000261965.3	-	2	295	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.R37W	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	37					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CCAATCACCCGCACAGCATAC	0.433000													15	42					0	0	0.007413	0	0
XIRP2	129446	broad.mit.edu	37	2	168102261	168102261	+	Silent	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr2:168102261T>G	ENST00000409195.1	+	9	4448	c.4359T>G	c.(4357-4359)acT>acG	p.T1453T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T1231T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T1453T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1278					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						AAACATCTACTTGGCTATTTG	0.348000													10	15					0	0	0.006214	0	0
DEFA4	1669	broad.mit.edu	37	8	6794410	6794410	+	Missense_Mutation	SNP	G	G	C	rs61749084	byFrequency	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:6794410G>C	ENST00000297435.2	-	2	136	c.12C>G	c.(10-12)atC>atG	p.I4M		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	4					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.I4I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CGAGGAGGGCGATAATCCTCA	0.622000													4	9					0	0	0.000248	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119533	17119533	+	RNA	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr22:17119533G>A	ENST00000426585.1	+	0	345																											AATTTTCACTGACAGCAAACT	0.343000													17	58					0	0	0.008871	0	0
DNAH9	1770	broad.mit.edu	37	17	11607549	11607549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr17:11607549G>A	ENST00000262442.3	+	25	5249	c.5181G>A	c.(5179-5181)tgG>tgA	p.W1727*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.W1727*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1727	Stem (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)		AGATCTGGTGGACAACAGAAG	0.507000													5	112					0	0	0.001168	0	0
DACH1	1602	broad.mit.edu	37	13	72063278	72063278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr13:72063278C>T	ENST00000305425.4	-	7	2001	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	DACH1_ENST00000359684.2_Missense_Mutation_p.E579K|DACH1_ENST00000313174.7_Missense_Mutation_p.E379K|DACH1_ENST00000354591.4_Missense_Mutation_p.E325K	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	577					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGCGGGGTCTCATCTGCATGT	0.428000													26	109					0	0	0.003330	0	0
PLEC	5339	broad.mit.edu	37	8	144996395	144996395	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:144996395C>G	ENST00000322810.4	-	32	8174	c.8005G>C	c.(8005-8007)Gag>Cag	p.E2669Q	PLEC_ENST00000436759.2_Missense_Mutation_p.E2559Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2555Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2510Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2532Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2500Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2518Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2532Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2536Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2669	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						tgctgctCCTCACGCAGCTGC	0.672000													3	12					0	0	0.004672	0	0
CALML4	91860	broad.mit.edu	37	15	68489825	68489825	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr15:68489825A>T	ENST00000448060.2	-	3	416	c.305T>A	c.(304-306)cTg>cAg	p.L102Q	CALML4_ENST00000467889.1_Missense_Mutation_p.L149Q|CALML4_ENST00000395465.3_Intron|CALML4_ENST00000540479.1_Missense_Mutation_p.L73Q|RP11-315D16.2_ENST00000562767.1_Silent_p.P75P	NM_001031733.2	NP_001026903.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	149	EF-hand 2.						calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TTTTGACCGCAGGTCGGACGC	0.498000													21	71					0	0	0.001523	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137497	40137497	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr11:40137497C>T	ENST00000278198.2	-	2	2309	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	LRRC4C_ENST00000530763.1_Missense_Mutation_p.E116K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E116K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E116K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	116					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCCCAATTTCAATGGTTCTG	0.428000													11	58					0	0	0.008291	0	0
ADAM29	11086	broad.mit.edu	37	4	175897135	175897135	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:175897135C>T	ENST00000359240.3	+	5	1129	c.459C>T	c.(457-459)gaC>gaT	p.D153D	ADAM29_ENST00000404450.4_Silent_p.D153D|ADAM29_ENST00000445694.1_Silent_p.D153D|ADAM29_ENST00000514159.1_Silent_p.D153D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	153					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACAAGATGGACAGTGAGGAGA	0.363000													19	67					0	0	0.006122	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47503732	47503732	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr19:47503732C>G	ENST00000404338.3	+	6	4287	c.4287C>G	c.(4285-4287)atC>atG	p.I1429M		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1429	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AACTCTTTATCCAGCAGTGCC	0.597000													30	103					0	0	0.008361	0	0
NSUN4	387338	broad.mit.edu	37	1	46826430	46826430	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:46826430delA	ENST00000474844.1	+	5	1458	c.808delA	c.(808-810)acfs	p.N271fs	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Frame_Shift_Del_p.N222fs|NSUN4_ENST00000537428.1_Frame_Shift_Del_p.N222fs	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	271							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TGAGGAGGAGAACAACATCTT	0.473													41	80	---	---	---	---					
RP11-13J8.1	0	broad.mit.edu	37	2	201967218	201967218	+	RNA	DEL	G	G	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:201967218delG	ENST00000448256.1	+	0	628																											aaaaaaaaaagaaTTTGTTCT	0.463													3	6	---	---	---	---					
TFG	10342	broad.mit.edu	37	3	100463757	100463758	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:100463757_100463758insA	ENST00000240851.4	+	7	1142_1143	c.802_803insA	c.(802-804)tggfs	p.W268fs	TFG_ENST00000490574.1_Frame_Shift_Ins_p.W268fs|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000418917.2_Frame_Shift_Ins_p.W264fs|TFG_ENST00000476228.1_Frame_Shift_Ins_p.W264fs	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	268					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GCCTCAACAGTATGGTATTCAG	0.455			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								70	83	---	---	---	---					
POLR2B	5431	broad.mit.edu	37	4	57896492	57896492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:57896492delT	ENST00000381227.1	+	25	3775	c.3362delT	c.(3361-3363)ctfs	p.L1121fs	POLR2B_ENST00000441246.2_Frame_Shift_Del_p.L1114fs|POLR2B_ENST00000431623.2_Frame_Shift_Del_p.L1046fs|POLR2B_ENST00000314595.5_Frame_Shift_Del_p.L1121fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1121					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 binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GTTTGCAATCTTTGTGGAATA	0.448													16	51	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187628386	187628386	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:187628386delC	ENST00000441802.2	-	2	2805	c.2596delG	c.(2596-2598)acfs	p.D866fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	866	Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAAAATGTGTCTGTGTCTGTA	0.493										HNSCC(5;0.00058)			21	32	---	---	---	---					
NELL1	4745	broad.mit.edu	37	11	21592401	21592402	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:21592401_21592402insA	ENST00000298925.5	+	19	2309_2310	c.2156_2157insA	c.(2155-2157)aagfs	p.K719fs	NELL1_ENST00000532434.1_Frame_Shift_Ins_p.K644fs|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Frame_Shift_Ins_p.K634fs|NELL1_ENST00000357134.5_Frame_Shift_Ins_p.K691fs			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	691	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACCAGAGTCACAAGTCAATGTT	0.470													61	104	---	---	---	---					
MS4A6E	245802	broad.mit.edu	37	11	60107412	60107418	+	Frame_Shift_Del	DEL	GGAAACA	GGAAACA	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:60107412_60107418delGGAAACA	ENST00000300182.4	+	3	493_499	c.428_434delGGAAACA	c.(427-435)tgfs	p.WKQ143fs		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	143						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GTGCTGCAGTGGAAACAGACTGTCTGA	0.478													22	99	---	---	---	---					
FAM101A	144347	broad.mit.edu	37	12	124719586	124719594	+	RNA	DEL	CACCACCAT	CACCACCAT	-	rs141799019	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:124719586_124719594delCACCACCAT	ENST00000540762.1	+	0	444																											tcaccatcaccaccaccatcatcaccatc	0.498													2	4	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23528491	23528491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:23528491delC	ENST00000262710.1	-	19	4219	c.3892delG	c.(3892-3894)acfs	p.D1298fs	ACIN1_ENST00000457657.1_Frame_Shift_Del_p.D1258fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.D540fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.D1240fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.D1285fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.D539fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.D540fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.D571fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1298	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCCccctgtcccgctccctt	0.637											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	32	---	---	---	---					
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr18:61388270_61388271delAC	ENST00000544088.1	+	0	836				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386													2	4	---	---	---	---					
POLR2B	5431	broad.mit.edu	37	4	57896492	57896492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:57896492delT	ENST00000381227.1	+	25	3775	c.3362delT	c.(3361-3363)ctfs	p.L1121fs	POLR2B_ENST00000441246.2_Frame_Shift_Del_p.L1114fs|POLR2B_ENST00000431623.2_Frame_Shift_Del_p.L1046fs|POLR2B_ENST00000314595.5_Frame_Shift_Del_p.L1121fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1121					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 binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GTTTGCAATCTTTGTGGAATA	0.448													16	51	---	---	---	---					
LOC440173	440173	broad.mit.edu	37	9	89628124	89628125	+	RNA	INS	-	-	A	rs35998235		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr9:89628124_89628125insA	ENST00000602579.1	-	0	256					NR_027471.1																						TGTCTCCCTTCAAAAAAAAAAA	0.366													4	8	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													4	9	---	---	---	---					
NELL1	4745	broad.mit.edu	37	11	21592401	21592402	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr11:21592401_21592402insA	ENST00000298925.5	+	19	2309_2310	c.2156_2157insA	c.(2155-2157)aagfs	p.K719fs	NELL1_ENST00000325319.5_Frame_Shift_Ins_p.K634fs|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Frame_Shift_Ins_p.K644fs|NELL1_ENST00000357134.5_Frame_Shift_Ins_p.K691fs			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	691	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACCAGAGTCACAAGTCAATGTT	0.470													61	104	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23528491	23528491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr14:23528491delC	ENST00000262710.1	-	19	4219	c.3892delG	c.(3892-3894)acfs	p.D1298fs	ACIN1_ENST00000457657.1_Frame_Shift_Del_p.D1258fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.D540fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.D1240fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.D1285fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.D540fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.D539fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.D571fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1298	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCCccctgtcccgctccctt	0.637											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	32	---	---	---	---					
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr18:61388270_61388271delAC	ENST00000544088.1	+	0	836				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386													2	4	---	---	---	---