Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TCTA_chr3_49407423_49421476	49408205	C C	CACACGTA others(23): Show CACACGTATATGTACACATATATATACGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02683.hp2 others(3): Show HG02451.hp2 HG02486.hp2 HG02683.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	6	346	0.0173	30	c.-42 others(41): Show c.-4222_-4221insACACGTATATGTACACATATATATACGTAT		TCTA	ENSG00000145022.5	transcript	ENST00000273590.4	protein_coding					4217		chr3	TogoVar
TCTN2_chr12_123666113_123713399	123712055	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 NA20805.hp1 HG00140.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0143 a0001c0001t0002g0136 a0001c0001t0002g0143	2	186	0.0108	30	c.43 others(41): Show c.4342_*4343insCACACACACACACACACACACACACACACA		TCTN2	ENSG00000168778.13	transcript	ENST00000303372.7	protein_coding					3657		chr12	TogoVar
TCTN3_chr10_95658401_95698927	95672159	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03710.hp2 NA19001.hp1 HG02698.hp2 HG03710.hp2 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	3	386	0.0078	30	c.159 others(49): Show c.1591-7860_1591-7859insACACACACACACACACACACACACAC ACAC		TCTN3	ENSG00000119977.22	transcript	ENST00000371217.10	protein_coding	13/13						chr10	TogoVar
TCTN3_chr10_95658401_95698927	95672160	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02257.hp2 HG01071.hp1 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0030 a0001c0002t0002g0004 a0001c0002t0002g0030	2	13	0.1538	30	c.159 others(49): Show c.1591-7861_1591-7860insCACACACACACACACACACACACACA CACA		TCTN3	ENSG00000119977.22	transcript	ENST00000371217.10	protein_coding	13/13						chr10	TogoVar
TDP2_chr6_24644979_24671899	24648659	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 NA19011.hp1 HG02559.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	307	0.0065	30	c.21 others(41): Show c.2128_*2129insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		TDP2	ENSG00000111802.14	transcript	ENST00000378198.9	protein_coding					1319		chr6	TogoVar
TDRD3_chr13_60392220_60578871	60557820	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	125	0.0080	30	c.211 others(49): Show c.2119-9683_2119-9682insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		TDRD3	ENSG00000083544.16	transcript	ENST00000377881.8	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr13	TogoVar
TDRD3_chr13_60392220_60578871	60567344	T T	TTTTTCTT others(23): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	193	0.0052	30	c.211 others(47): Show c.2119-156_2119-155insTTTTCTTTTCTTTTCTTTTCTTTTCTTT TC		TDRD3	ENSG00000083544.16	transcript	ENST00000377881.8	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr13	TogoVar
TDRKH_chr1_151768494_151795500	151781324	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp2 HG02897.hp2 HG02647.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	3	405	0.0074	30	c.231 others(45): Show c.231+156_231+157insATATATATATATATATATATATATATATAT		TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12						chr1	TogoVar
TDRKH_chr1_151768494_151795500	151781326	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18970.hp1 NA18980.hp1 others(1): Show HG02486.hp1 NA18970.hp1 NA18980.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0045 a0001c0001t0002g0046	4	383	0.0104	30	c.231 others(45): Show c.231+154_231+155insATATATATATATATATATATATATATATAT		TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12						chr1	TogoVar
TDRKH_chr1_151768494_151795500	151781328	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03017.hp2 HG01109.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	2	177	0.0113	30	c.231 others(45): Show c.231+152_231+153insATATATATATATATATATATATATATATTT		TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12						chr1	TogoVar
TDRKH_chr1_151768494_151795500	151781328	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00733.hp1 others(14): Show HG00099.hp2 HG00280.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG02300.hp1 HG02698.hp1 HG03017.hp1 NA18612.hp1 NA18978.hp1 NA19000.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0029 others(3): Show a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0029 a0001c0001t0002g0050 a0001c0001t0002g0104 a0001c0001t0002g0138	17	192	0.0885	30	c.231 others(45): Show c.231+152_231+153insATATATATATATATATATATATATATATAT		TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12						chr1	TogoVar
TEAD1_chr11_12669421_12949737	12821961	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0153	1	11	0.0909	30	c.203 others(49): Show c.203-40269_203-40268insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	3/12					WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TEAD1_chr11_12669421_12949737	12840246	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18960.hp2 HG02486.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0047 a0001c0001t0001 a0001c0001t0047	a0001c0001t0001g0151 a0001c0001t0047g0171 a0001c0001t0001g0151 a0001c0001t0047g0171	2	150	0.0133	30	c.203 others(49): Show c.203-21988_203-21987insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	3/12					WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TECR_chr19_14524594_14570980	14543419	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	173	0.0058	30	c.15+ others(47): Show c.15+13716_15+13745dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		TECR	ENSG00000099797.15	transcript	ENST00000215567.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
TEC_chr4_48130783_48274838	48238660	A A	ATATATAA others(23): Show ATATATAAATTTATGTAAATTTATATAAATG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0216 a0001c0002t0005g0216	1	344	0.0029	30	c.-45 others(49): Show c.-45-10002_-45-10001insCATTTATATAAATTTACATAAATTTA TATA		TEC	ENSG00000135605.13	transcript	ENST00000381501.8	protein_coding	1/17						chr4	TogoVar
TEKT1_chr17_6792993_6836729	6793183	G G	GAAAGAAG others(23): Show GAAAGAAGAAAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG03669.hp1 NA19056.hp2 HG02698.hp1 HG03669.hp1 NA19056.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0022 a0004c0005t0006g0080 a0004c0005t0006g0083 a0004c0005t0006g0022 a0004c0005t0006g0080 a0004c0005t0006g0083	3	230	0.0130	30	c.68 others(41): Show c.6843_*6844insTCTTTCTTTCTTTCTTTCTTTTTCTTCTTT		TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding					4809		chr17	TogoVar
TEKT1_chr17_6792993_6836729	6793214	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 NA21309.hp2 HG03209.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0197 a0001c0002t0007g0198 a0001c0002t0007g0197 a0001c0002t0007g0198	2	395	0.0051	30	c.68 others(41): Show c.6812_*6813insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT		TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding					4778		chr17	TogoVar
TENM1_chrX_124370903_125209312	124375202	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0005 a0001c0028t0005	a0001c0028t0005g0070 a0001c0028t0005g0070	1	112	0.0089	30	c.53 others(41): Show c.5333_*5334insGTGTGTGTGTATATATATATATATATATAT		TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding					700		chrX	TogoVar
TENM1_chrX_124370903_125209312	124951639	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	127	0.0079	30	c.217 others(49): Show c.217+11868_217+11897dupATATATATATATATATATATATATAT ATAT		TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	4/34						chrX	TogoVar
TENM2_chr5_166974029_168269157	166979174	T T	TAGCAGCA others(23): Show TAGCAGCAGCAGCACCACCACCAGCAGCAGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0017 a0001c0007t0017	a0001c0007t0017g0030 a0001c0007t0017g0030	1	53	0.0189	30	c.-52 others(39): Show c.-525_-496dupCCACCACCAGCAGCAGCAGCAGCAGCAGCA		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	1/31				305620	INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167056571	G G	GTATCTAT others(23): Show GTATCTATATAAATATATCTATATAAATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01943.hp2 HG02145.hp1 others(12): Show HG01192.hp1 HG01943.hp2 HG02145.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02818.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0019 a0001c0021 a0001c0027 a0001c0030 a0002c0020 a0003c0035 a0005c0009 a0006c0013	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0004t0004 a0001c0004t0008 a0001c0008t0002 a0001c0008t0003 a0001c0019t0003 a0001c0021t0020 a0001c0027t0002 a0001c0030t0004 a0002c0020t0026 a0003c0035t0001 a0005c0009t0018 a0006c0013t0004	a0001c0001t0001g0045 a0001c0001t0004g0006 a0001c0003t0001g0040 others(12): Show a0001c0001t0001g0045 a0001c0001t0004g0006 a0001c0003t0001g0040 a0001c0004t0004g0025 a0001c0004t0008g0010 a0001c0008t0002g0035 a0001c0008t0003g0029 a0001c0019t0003g0022 a0001c0021t0020g0021 a0001c0027t0002g0031 a0001c0030t0004g0014 a0002c0020t0026g0013 a0003c0035t0001g0039 a0005c0009t0018g0033 a0006c0013t0004g0015	15	54	0.2778	30	c.-18 others(51): Show c.-189-16607_-189-16578dupCTATATAAATATATCTATATAAAT ATATAT		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	1/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167196512	G G	GTGTATAT others(23): Show GTGTATATATATATGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02451.hp2 others(4): Show HG02055.hp2 HG02145.hp1 HG02451.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03209.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0002 a0001c0016 a0001c0028 others(4): Show a0001c0002 a0001c0016 a0001c0028 a0001c0031 a0003c0035 a0005c0009 a0007c0036	a0001c0002t0013 a0001c0016t0015 a0001c0028t0011 others(4): Show a0001c0002t0013 a0001c0016t0015 a0001c0028t0011 a0001c0031t0001 a0003c0035t0001 a0005c0009t0003 a0007c0036t0004	a0001c0002t0013g0041 a0001c0016t0015g0047 a0001c0028t0011g0042 others(4): Show a0001c0002t0013g0041 a0001c0016t0015g0047 a0001c0028t0011g0042 a0001c0031t0001g0050 a0003c0035t0001g0039 a0005c0009t0003g0027 a0007c0036t0004g0017	7	46	0.1522	30	c.-74 others(49): Show c.-74-88249_-74-88248insATATATATATGTGTGTGTATATATAT ATGT		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	2/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167515609	A A	ATATATAT others(23): Show ATATATATATACATATATATACATATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp1 HG02451.hp1 HG02970.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0024 a0001c0001 a0004c0024	a0001c0001t0001 a0004c0024t0014 a0001c0001t0001 a0004c0024t0014	a0001c0001t0001g0045 a0004c0024t0014g0048 a0001c0001t0001g0045 a0004c0024t0014g0048	2	54	0.0370	30	c.502 others(51): Show c.502+140149_502+140178dupTATATATACATATATATGTATATA TATACA		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167853289	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0026 a0001c0006t0005g0026	1	10	0.1000	30	c.503 others(49): Show c.503-22674_503-22673insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	168238258	A A	AGAAAAGA others(23): Show AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0009 a0001c0026t0009	a0001c0026t0009g0005 a0001c0026t0009g0005	1	53	0.0189	30	c.552 others(49): Show c.5521-6133_5521-6132insGGAAAAGAAAAGAAAAGAAAAGAAAA GAAA		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	27/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	168238268	A A	AGAAAAGA others(23): Show AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0052 a0001c0025t0002g0052	1	45	0.0222	30	c.552 others(49): Show c.5521-6123_5521-6122insGGAAAAGAAAAGAAAAGAAAAGAAAA GAAA		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	27/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM3_chr4_182238402_182808024	182432846	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp2 HG01167.hp2 others(22): Show HG00738.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01258.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02886.hp1 HG02965.hp1 HG03139.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18942.hp2 NA18952.hp1 NA19240.hp2 NA20752.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0015 a0001c0017 a0001c0024 a0001c0027 a0001c0035 a0001c0044 a0001c0049 a0004c0032 a0007c0048	a0001c0001t0001 a0001c0002t0005 a0001c0003t0002 others(15): Show a0001c0001t0001 a0001c0002t0005 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0001c0005t0009 a0001c0006t0001 a0001c0008t0001 a0001c0011t0001 a0001c0015t0001 a0001c0017t0007 a0001c0024t0001 a0001c0027t0002 a0001c0035t0010 a0001c0044t0018 a0001c0049t0001 a0004c0032t0001 a0007c0048t0006	a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0091 others(22): Show a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0091 a0001c0002t0005g0065 a0001c0003t0002g0039 a0001c0004t0001g0003 a0001c0004t0001g0081 a0001c0004t0001g0123 a0001c0005t0002g0040 a0001c0005t0009g0088 a0001c0006t0001g0002 a0001c0006t0001g0027 a0001c0008t0001g0009 a0001c0011t0001g0029 a0001c0011t0001g0030 a0001c0015t0001g0076 a0001c0017t0007g0038 a0001c0017t0007g0060 a0001c0024t0001g0042 a0001c0027t0002g0005 a0001c0035t0010g0139 a0001c0044t0018g0020 a0001c0049t0001g0086 a0004c0032t0001g0026 a0007c0048t0006g0134	25	111	0.2252	30	c.511 others(49): Show c.511+85919_511+85920insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182432849	G G	GGGGTGTG others(23): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0114 a0001c0013t0003g0114	1	24	0.0417	30	c.511 others(49): Show c.511+85921_511+85922insGGTGTGTGTGTGTGTGTGTGTGTGTG TGTG		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182432849	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp1 NA21309.hp1 HG00673.hp2 HG01243.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0034 a0001c0050 a0001c0003 a0001c0034 a0001c0050	a0001c0003t0002 a0001c0034t0020 a0001c0050t0001 a0001c0003t0002 a0001c0034t0020 a0001c0050t0001	a0001c0003t0002g0035 a0001c0034t0020g0064 a0001c0050t0001g0021 a0001c0003t0002g0035 a0001c0034t0020g0064 a0001c0050t0001g0021	3	26	0.1154	30	c.511 others(49): Show c.511+85936_511+85937insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182603765	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02165.hp2 NA20752.hp1 HG00642.hp2 HG02165.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0036 a0001c0001 a0003c0036	a0001c0001t0001 a0003c0036t0001 a0001c0001t0001 a0003c0036t0001	a0001c0001t0001g0024 a0001c0001t0001g0091 a0003c0036t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0091 a0003c0036t0001g0019	3	122	0.0246	30	c.749 others(47): Show c.749+2605_749+2606insTTATATATATATATATATATATATATAT AT		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27					INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182603784	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0053 a0001c0002t0004g0053	1	57	0.0175	30	c.749 others(47): Show c.749+2624_749+2625insTATATATATATATATATATATATACACA CA		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27					INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182603784	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG06807.hp1 NA18906.hp2 HG02630.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0015 a0001c0006 a0001c0007 a0001c0015	a0001c0006t0001 a0001c0007t0004 a0001c0015t0001 a0001c0006t0001 a0001c0007t0004 a0001c0015t0001	a0001c0006t0001g0102 a0001c0007t0004g0113 a0001c0015t0001g0076 a0001c0006t0001g0102 a0001c0007t0004g0113 a0001c0015t0001g0076	3	59	0.0508	30	c.749 others(47): Show c.749+2624_749+2625insTATATATATATATATATATATATATACA CA		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27					INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182650889	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	128	0.0078	30	c.989 others(47): Show c.989-2881_989-2880insAATATATATATATATATATATATATATA TA		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	5/27					INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM4_chr11_78647829_79446030	78893780	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02922.hp1 HG03139.hp2 HG00639.hp1 HG02922.hp1 HG03139.hp2	a0001 a0001	a0001c0008 a0001c0011 a0001c0035 a0001c0008 a0001c0011 a0001c0035	a0001c0008t0052 a0001c0011t0047 a0001c0035t0034 a0001c0008t0052 a0001c0011t0047 a0001c0035t0034	a0001c0008t0052g0069 a0001c0011t0047g0066 a0001c0035t0034g0026 a0001c0008t0052g0069 a0001c0011t0047g0066 a0001c0035t0034g0026	3	13	0.2308	30	c.750 others(47): Show c.750-2445_750-2444insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	7/33						chr11	TogoVar
TENM4_chr11_78647829_79446030	79137389	C C	CTGCCCTG others(23): Show CTGCCCTGTGATTAAGGTCAATGGAAAACTA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0048 a0001c0001t0042g0048	1	92	0.0109	30	c.-66 others(49): Show c.-66+11291_-66+11320dupTAGTTTTCCATTGACCTTAATCACAG GGCA		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TENM4_chr11_78647829_79446030	79138485	A A	ATATATTT others(23): Show ATATATTTATACATAATATATTAAAATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG04204.hp1 HG00735.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0006 a0001c0001t0001 a0001c0003t0006	a0001c0001t0001g0035 a0001c0003t0006g0065 a0001c0001t0001g0035 a0001c0003t0006g0065	2	92	0.0217	30	c.-66 others(49): Show c.-66+10195_-66+10224dupATATATTTTAATATATTATGTATAAA TATA		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TENM4_chr11_78647829_79446030	79138905	C C	CTATAAAT others(23): Show CTATAAATATATAAAATATATATTATATTTA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	1	40	0.0250	30	c.-66 others(47): Show c.-66+9804_-66+9805insTAAATATAATATATATTTTATATATTTA TA		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TENM4_chr11_78647829_79446030	79139562	G G	GAAATATA others(23): Show GAAATATATAAAATATATATTATATTTCTAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	1	54	0.0185	30	c.-66 others(47): Show c.-66+9147_-66+9148insATAGAAATATAATATATATTTTATATAT TT		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TENM4_chr11_78647829_79446030	79139673	T T	TTTTATAT others(23): Show TTTTATATAAGTATATAAAATATATATTATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19043.hp2 HG01081.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0015 a0001c0005t0064 a0001c0001t0015 a0001c0005t0064	a0001c0001t0015g0086 a0001c0005t0064g0094 a0001c0001t0015g0086 a0001c0005t0064g0094	2	69	0.0290	30	c.-66 others(47): Show c.-66+9036_-66+9037insTATAATATATATTTTATATACTTATATA AA		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TENM4_chr11_78647829_79446030	79139785	T T	TTATATTT others(23): Show TTATATTTATATAAATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0086 a0001c0001t0015g0086	1	49	0.0204	30	c.-66 others(47): Show c.-66+8924_-66+8925insTTATATATTTTATATATTTATATAAATA TA		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TENM4_chr11_78647829_79446030	79336064	G G	GGTGATCA others(23): Show GGTGATCACCCTATGAATCAGTGGCAGGCCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02630.hp2 HG02647.hp2 others(5): Show HG01074.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02897.hp1 HG02922.hp2 HG03516.hp1 HG03516.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0006 a0001c0007 a0001c0011 others(5): Show a0001c0006 a0001c0007 a0001c0011 a0001c0013 a0001c0021 a0001c0028 a0004c0045 a0008c0016	a0001c0006t0005 a0001c0007t0018 a0001c0011t0036 others(5): Show a0001c0006t0005 a0001c0007t0018 a0001c0011t0036 a0001c0013t0032 a0001c0021t0002 a0001c0028t0060 a0004c0045t0044 a0008c0016t0021	a0001c0006t0005g0037 a0001c0007t0018g0091 a0001c0011t0036g0045 others(5): Show a0001c0006t0005g0037 a0001c0007t0018g0091 a0001c0011t0036g0045 a0001c0013t0032g0043 a0001c0021t0002g0033 a0001c0028t0060g0087 a0004c0045t0044g0071 a0008c0016t0021g0006	8	92	0.0870	30	c.-32 others(51): Show c.-320-38522_-320-38521insAGGCCTGCCACTGATTCATAGGGT GATCAC		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	1/33						chr11	TogoVar
TENM4_chr11_78647829_79446030	79384937	T T	TTAAAATA others(23): Show TTAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02897.hp1 HG04204.hp2 others(1): Show HG01361.hp2 HG02897.hp1 HG04204.hp2 NA19240.hp2	a0001 a0007 a0008 others(1): Show a0001 a0007 a0008 a0013	a0001c0005 a0007c0047 a0008c0016 others(1): Show a0001c0005 a0007c0047 a0008c0016 a0013c0014	a0001c0005t0002 a0007c0047t0041 a0008c0016t0021 others(1): Show a0001c0005t0002 a0007c0047t0041 a0008c0016t0021 a0013c0014t0001	a0001c0005t0002g0041 a0007c0047t0041g0047 a0008c0016t0021g0006 others(1): Show a0001c0005t0002g0041 a0007c0047t0041g0047 a0008c0016t0021g0006 a0013c0014t0001g0018	4	24	0.1667	30	c.-32 others(51): Show c.-321+55542_-321+55571dupTTTTATTTTATTTTATTTTATTTT ATTTTA		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	1/33						chr11	TogoVar
TENT5A_chr6_81740730_81757681	81752005	C C	CTGCCACC others(23): Show CTGCCACCGCCGAAGTCGCCGCCGCCGAAGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0019 a0004c0012t0019	a0004c0012t0019g0082 a0004c0012t0019g0082	1	444	0.0023	30	c.136 others(37): Show c.136_137insACTTCGGCGGCGGCGACTTCGGCGGTGGCA	p.Gly others(41): Show p.Gly46delinsAspPheGlyGlyGlyAspPheGlyGlyGlySer	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding	2/3	424/5582	136/1329	46/442			chr6	TogoVar
TENT5A_chr6_81740730_81757681	81752010	A A	ACCGCCGA others(23): Show ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00544.hp1 HG00642.hp1 HG00735.hp1 others(40): Show HG00544.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp2 HG01106.hp2 HG01496.hp2 HG01978.hp1 HG02074.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp2 HG02965.hp2 HG03195.hp2 HG03453.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18973.hp1 NA18975.hp2 NA18986.hp2 NA19004.hp2 NA19011.hp1 NA19066.hp2 NA19079.hp1 NA19083.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 others(9): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 a0004c0004t0006 a0004c0004t0007 a0004c0004t0008 a0004c0004t0010 a0004c0004t0014 a0004c0004t0016 a0004c0004t0020 a0004c0006t0002 a0004c0006t0021	a0004c0004t0001g0008 a0004c0004t0001g0050 a0004c0004t0003g0023 others(10): Show a0004c0004t0001g0008 a0004c0004t0001g0050 a0004c0004t0003g0023 a0004c0004t0004g0048 a0004c0004t0006g0028 a0004c0004t0007g0032 a0004c0004t0008g0014 a0004c0004t0010g0047 a0004c0004t0014g0027 a0004c0004t0016g0026 a0004c0004t0020g0049 a0004c0006t0002g0011 a0004c0006t0021g0046	43	122	0.3525	30	c.102 others(37): Show c.102_131dupCGGCGACTTCGGCGGCGGCGACTTCGGCGG	p.Gly others(41): Show p.Gly44_Gly45insGlyAspPheGlyGlyGlyAspPheGlyGly	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding	2/3	419/5582	131/1329	44/442			chr6	TogoVar
TENT5C_chr1_117601048_117633389	117609459	G G	GCTTGAGA others(23): Show GCTTGAGACTAAAGTCTTGGAGTCTTGGTCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0120 a0001c0001t0034g0120	1	392	0.0026	30	c.-28 others(47): Show c.-28+3308_-28+3337dupTTGAGACTAAAGTCTTGGAGTCTTGGTC AC		TENT5C	ENSG00000183508.5	transcript	ENST00000369448.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr1	TogoVar
TERT_chr5_1248167_1300068	1272985	C C	CCGCCATC others(23): Show CCGCCATCCACAGTCACCACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	82	0.0122	30	c.228 others(47): Show c.2287-706_2287-705insTGGGGTCTGATGTGGTGACTGTGGATGG CG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273064	G G	GCCATCCA others(23): Show GCCATCCACAGTCACCACATCAGACCCCACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18971.hp1 NA18985.hp2 others(1): Show HG00544.hp2 NA18971.hp1 NA18985.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0163 a0001c0001t0001g0330 a0001c0001t0001g0336 others(1): Show a0001c0001t0001g0163 a0001c0001t0001g0330 a0001c0001t0001g0336 a0001c0003t0001g0251	4	351	0.0114	30	c.228 others(47): Show c.2287-785_2287-784insTGTGGGGTCTGATGTGGTGACTGTGGAT GG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(23): Show CCGCCATCCACAGTCACCACATCAGGCCCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG01255.hp2 others(6): Show HG00140.hp1 HG01069.hp2 HG01255.hp2 HG01978.hp2 HG02027.hp2 HG02735.hp2 HG03669.hp1 HG04184.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0001g0355 others(6): Show a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0364 a0001c0001t0001g0379 a0001c0002t0001g0011 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108	9	106	0.0849	30	c.228 others(49): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGCG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TESC_chr12_117033923_117104416	117075887	A A	ATATATAT others(23): Show ATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	300	0.0033	30	c.59- others(43): Show c.59-548_59-547insCACACACACACATATATATATATATATATA		TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7						chr12	TogoVar
TESC_chr12_117033923_117104416	117075889	A A	ATATATAT others(23): Show ATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	304	0.0033	30	c.59- others(43): Show c.59-550_59-549insCACACACACACACATATATATATATATATA		TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7						chr12	TogoVar

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