Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYNN_chr3_169768396_169794716	169770957	A A	AATAAAAA others(43): Show AATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATAT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0040 a0001c0001t0014g0040	1	350	0.0029	50	c.-25 others(61): Show c.-2537_-2536insATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2438		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771050	A A	AATAAAAA others(43): Show AATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATAT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0018 a0001c0001t0017g0018	1	350	0.0029	50	c.-24 others(61): Show c.-2444_-2443insATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2345		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771080	A A	ATATAAAA others(43): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATGTTTATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0067	1	350	0.0029	50	c.-24 others(61): Show c.-2414_-2413insTATAAAAATTTATATTTATATATCATATATAAAA ATTTATGTTTATATAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2315		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771173	A A	ATATAAAA others(43): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 NA20805.hp1 HG02056.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	2	350	0.0057	50	c.-23 others(61): Show c.-2321_-2320insTATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2222		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771235	A A	ATATAAAA others(43): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02622.hp2 NA19011.hp1 HG00408.hp2 HG02622.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0006g0037 a0001c0002t0002g0002 a0001c0002t0002g0017 a0001c0001t0006g0037 a0001c0002t0002g0002 a0001c0002t0002g0017	3	350	0.0086	50	c.-22 others(61): Show c.-2259_-2258insTATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2160		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771266	A A	ATATAAAA others(43): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	50	c.-22 others(61): Show c.-2228_-2227insTATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2129		chr3	TogoVar
MYO18B_chr22_25737188_26036045	25945857	G G	GCCTCCCC others(43): Show GCCTCCCCTCCCCTCCCCTCCCCTCCCCTCACCTCCCCTCCCCTCCCCTC C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0026 a0026	a0026c0075 a0026c0075	a0026c0075t0002 a0026c0075t0002	a0026c0075t0002g0105 a0026c0075t0002g0105	1	228	0.0044	50	c.551 others(67): Show c.5518-256_5518-255insCCCTCACCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTC	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	34/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAATATA others(43): Show AAAATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0124 a0002c0001t0001g0124	1	312	0.0032	50	c.194 others(67): Show c.1949+324_1949+325insAATATATATATATATATATATATATATA TATATATATATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109443040	G G	GTGTATAC others(43): Show GTGTATACACATATATATGTGTGTATATGTGTACGTATATATGTGTACGT A	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19240.hp2 HG02486.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0003 a0001c0003t0001g0002 a0001c0003t0001g0003	2	312	0.0064	50	c.268 others(67): Show c.2689-471_2689-470insATACACATATATATGTGTGTATATGTGT ACGTATATATGTGTACGTATGT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109443040	G G	GTGTATAC others(43): Show GTGTATACACATATATGTGTGTATATATGTGTACGTATATATGTGTACGT A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02630.hp2 others(6): Show HG02258.hp1 HG02572.hp2 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 a0001c0003 a0001c0005 a0001c0006	a0001c0003t0001 a0001c0005t0005 a0001c0006t0005 a0001c0003t0001 a0001c0005t0005 a0001c0006t0005	a0001c0003t0001g0297 a0001c0005t0005g0014 a0001c0006t0005g0293 others(6): Show a0001c0003t0001g0297 a0001c0005t0005g0014 a0001c0006t0005g0293 a0001c0006t0005g0298 a0001c0006t0005g0299 a0001c0006t0005g0300 a0001c0006t0005g0304 a0001c0006t0005g0307 a0001c0006t0005g0308	9	312	0.0289	50	c.268 others(67): Show c.2689-471_2689-470insATACACATATATGTGTGTATATATGTGT ACGTATATATGTGTACGTATGT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109443040	G G	GTGTGTAC others(43): Show GTGTGTACACATATATGTGTGTATATATGTGTACGTATATATGTGTACGT A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0309 a0001c0006t0005g0309	1	312	0.0032	50	c.268 others(67): Show c.2689-469_2689-468insACACATATATGTGTGTATATATGTGTAC GTATATATGTGTACGTATGTGT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO5C_chr15_52187322_52300804	52270590	G G	GTATATAT others(43): Show GTATATATACACACACATTTATATATGTATATATAAATGTATGTGTATAT A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0067 a0001c0003t0008g0067	1	360	0.0028	50	c.833 others(65): Show c.833-780_833-731dupTATATACACATACATTTATATATACATATA TAAATGTGTGTGTATATATA	MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	7/40			chr15	TogoVar
MYO5C_chr15_52187322_52300804	52299678	G G	GGGGGGAG others(43): Show GGGGGGAGGAAGGGGGGGGGGTGGGGGGGGGAGGGGGGGGGGGGGGGGGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0105 a0002c0002t0035g0105	1	360	0.0028	50	c.-40 others(61): Show c.-4043_-4042insTTCCCCCCCCCCCCCCCCCTCCCCCCCCCACCCC CCCCCCTTCCTCCCCC	MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding		3875		chr15	TogoVar
MYOF_chr10_93301429_93487334	93406288	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	240	0.0042	50	c.730 others(67): Show c.730-2070_730-2069insTATATATATATATATATATATATATATA TATATATATATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478836	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA20300.hp1 NA18984.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0091 a0001c0005t0001g0092 a0001c0002t0001g0091 a0001c0005t0001g0092	2	240	0.0083	50	c.88+ others(65): Show c.88+3270_88+3271insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOM2_chr8_2040046_2150456	2085602	C C	CATGATCT others(43): Show CATGATCTCTGGCACCCCACTGTCATGATCTCCGCGTGGCCCCCCACTGT T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0016 a0016	a0016c0078 a0016c0078	a0016c0078t0002 a0016c0078t0002	a0016c0078t0002g0247 a0016c0078t0002g0247	1	403	0.0025	50	c.164 others(67): Show c.1644+212_1644+213insATGATCTCTGGCACCCCACTGTCATGAT CTCCGCGTGGCCCCCCACTGTT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085671	G G	GCCTCCCA others(43): Show GCCTCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGC A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0290 a0001c0014t0002g0290	1	403	0.0025	50	c.164 others(67): Show c.1644+283_1644+284insTCCCACTGTTGTGATCTTTGCGTGGCCC CACTGTCATGATCTCTGGCACC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085727	C C	CCTACTGT others(43): Show CCTACTGTCATGATCTCCACGTGGCCACACACTGTCATGATCTCTGGCAC T	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0282 a0001c0002t0001g0282	1	403	0.0025	50	c.164 others(67): Show c.1644+338_1644+339insTACTGTCATGATCTCCACGTGGCCACAC ACTGTCATGATCTCTGGCACTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085887	C C	CCTACTGT others(43): Show CCTACTGTCATGATCTCCACGTGGCCACACACTGTCATGATCTCTGGCAC T	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0282 a0001c0002t0001g0282	1	403	0.0025	50	c.164 others(67): Show c.1644+498_1644+499insTACTGTCATGATCTCCACGTGGCCACAC ACTGTCATGATCTCTGGCACTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086214	A A	ATGATCTC others(43): Show ATGATCTCTGGCACTCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTC G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0015 a0001c0009t0002g0015	1	403	0.0025	50	c.164 others(67): Show c.1644+832_1644+833insGGCACTCCACTGTCGTGATCTCCGCGTG GCCCCCCACAGTCGTGATCTCT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086332	C C	CCCACTGT others(43): Show CCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGTG G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0117 a0001c0117	a0001c0117t0004 a0001c0117t0004	a0001c0117t0004g0283 a0001c0117t0004g0283	1	403	0.0025	50	c.164 others(67): Show c.1644+944_1644+945insACTGTCGTGATCTCCGCGTGGCCCCCCA CAGTCGTGATCTCTGCGTGGCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2120685	T T	TATATATA others(43): Show TATATATATATATATATATATATATAATATATATATAAATATATATTTAT A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03654.hp2 HG03490.hp2 HG03654.hp2	a0004 a0063 a0004 a0063	a0004c0007 a0063c0155 a0004c0007 a0063c0155	a0004c0007t0001 a0063c0155t0001 a0004c0007t0001 a0063c0155t0001	a0004c0007t0001g0262 a0063c0155t0001g0268 a0004c0007t0001g0262 a0063c0155t0001g0268	2	403	0.0050	50	c.345 others(69): Show c.3454-2564_3454-2563insTATATATATATATATATATATAATAT ATATATAAATATATATTTATAATA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2130178	C C	CTACCCAG others(43): Show CTACCCAGGGCGCCCACACCCCGCCTTTAGTTAACGCCCGTCAGTACCGT A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0293 a0005c0005t0001g0293	1	403	0.0025	50	c.380 others(68): Show c.3800+994_3800+1043dupGTATACCCAGGGCGCCCACACCCCGCC TTTAGTTAACGCCCGTCAGTACC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	32/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM3_chr1_24051041_24117135	24067354	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19081.hp1 NA19084.hp2 NA18951.hp1 NA19081.hp1 NA19084.hp2	a0002 a0002	a0002c0001 a0002c0018 a0002c0001 a0002c0018	a0002c0001t0001 a0002c0018t0001 a0002c0001t0001 a0002c0018t0001	a0002c0001t0001g0096 a0002c0001t0001g0148 a0002c0018t0001g0212 a0002c0001t0001g0096 a0002c0001t0001g0148 a0002c0018t0001g0212	3	364	0.0082	50	c.335 others(67): Show c.3356-267_3356-266insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	27/36			chr1	TogoVar
MYRFL_chr12_69820227_69964097	69877025	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG04115.hp2 HG01070.hp2 HG04115.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0009 a0001c0003 a0006c0009	a0001c0003t0001 a0006c0009t0003 a0001c0003t0001 a0006c0009t0003	a0001c0003t0001g0170 a0006c0009t0003g0220 a0001c0003t0001g0170 a0006c0009t0003g0220	2	322	0.0062	50	c.138 others(67): Show c.138-2002_138-2001insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69926079	T T	TTCAGAAG others(43): Show TTCAGAAGACTGTTCTGACTTTCTTTTTTCTTCTATGAACAGACAATTCA A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01891.hp1 others(15): Show HG00639.hp1 HG01167.hp2 HG01891.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03130.hp1 HG03486.hp1 HG03516.hp2 HG06807.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0003c0004 others(2): Show a0001c0001 a0001c0003 a0003c0004 a0003c0006 a0005c0008	a0001c0001t0003 a0001c0003t0003 a0003c0004t0001 others(3): Show a0001c0001t0003 a0001c0003t0003 a0003c0004t0001 a0003c0004t0003 a0003c0006t0001 a0005c0008t0004	a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0248 others(15): Show a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0248 a0001c0001t0003g0264 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0003t0003g0187 a0001c0003t0003g0257 a0001c0003t0003g0258 a0003c0004t0001g0247 a0003c0004t0003g0092 a0003c0006t0001g0091 a0005c0008t0004g0230 a0005c0008t0004g0290 a0005c0008t0004g0301 a0005c0008t0004g0303 a0005c0008t0004g0304 a0005c0008t0004g0305	18	322	0.0559	50	c.160 others(67): Show c.1603-492_1603-491insTCAGAAGACTGTTCTGACTTTCTTTTTT CTTCTATGAACAGACAATTCAA	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	13/24			chr12	TogoVar
MYRIP_chr3_39804609_40265321	40192313	T T	TATATATG others(43): Show TATATATGACATATATATATATATATATATATATATATATATATATATGT C	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18947.hp1 HG01255.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0164 a0001c0001t0001g0124 a0001c0001t0001g0164	2	170	0.0118	50	c.166 others(69): Show c.1665+1856_1665+1857insGACATATATATATATATATATATATA TATATATATATATATGTCATATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40218610	T T	TATATTTA others(43): Show TATATTTATATATATATATATATAATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0165 a0001c0004t0003g0165	1	170	0.0059	50	c.190 others(69): Show c.1905+8517_1905+8518insATATTTATATATATATATATATAATA TATATATATATATATATATATATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	11/16			chr3	TogoVar
MYSM1_chr1_58649743_58705062	58651407	A A	AGTGTGTG others(43): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0204 a0001c0001t0004g0204	1	410	0.0024	50	c.85 others(61): Show c.8589_*8590insACACACACACACACACACACACACACACACACAC ACACACACACACACAC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3335		chr1	TogoVar
MYT1_chr20_64159452_64247253	64173492	T T	TTAGTTGT others(43): Show TTAGTTGTGTCCATTCCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTC C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	223	0.0045	50	c.-99 others(67): Show c.-99+8767_-99+8768insCCCCCTCCCTGACTTCTCCTCCTGCAGC ATCTTTCCTAGTTGTGTCCATT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64173701	G G	GTAGTTGT others(43): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTC C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04199.hp1 HG03942.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0027 a0001c0005t0001g0028 a0001c0005t0001g0027 a0001c0005t0001g0028	2	223	0.0090	50	c.-99 others(67): Show c.-99+8987_-99+8988insGCTTCTCCTCCTGCAGCATCTTTCCTAG TTGTGTCCATTTCCCCTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64173701	G G	GTAGTTGT others(43): Show GTAGTTGTGTCCATTTTCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTC C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	223	0.0045	50	c.-99 others(67): Show c.-99+8977_-99+8978insTCCCTCCCTGACTTCTCCTCCTGCAGCA TCTTTCCTAGTTGTGTCCATTT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64173740	C C	CAGCATCT others(43): Show CAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTG T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03195.hp1 HG01192.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0011 a0001c0002 a0002c0011	a0001c0002t0002 a0002c0011t0010 a0001c0002t0002 a0002c0011t0010	a0001c0002t0002g0082 a0002c0011t0010g0081 a0001c0002t0002g0082 a0002c0011t0010g0081	2	223	0.0090	50	c.-99 others(67): Show c.-99+9007_-99+9008insTTTCCCTGTAGTTGTGTCCATTCCCCCT CCCTGGCTTCTCCTGTAGCATC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64173940	T T	TAGCATCT others(43): Show TAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTG C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02723.hp2 HG01496.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0040 a0001c0001t0010g0222 a0001c0001t0001g0040 a0001c0001t0010g0222	2	223	0.0090	50	c.-99 others(67): Show c.-99+9212_-99+9213insTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTCCTGCAGCATCTTTCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174130	C C	CCTCCTGC others(43): Show CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0010 a0002c0011t0010	a0002c0011t0010g0081 a0002c0011t0010g0081	1	223	0.0045	50	c.-99 others(67): Show c.-99+9426_-99+9427insTCCCCTCCCTGGCTTCTCCTGCAGCATC TTTCCCTGTAGTTGTGTCCATT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174130	C C	CCTGCAGC others(43): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCTCCAGGGCT T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	223	0.0045	50	c.-99 others(67): Show c.-99+9393_-99+9394insGCAGCATCTTTCCCTGTAGTTGTGTCCA TTTCCCCTCCTCCAGGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174245	C C	CCTGTAGT others(43): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTGCAGCATCTTTCCCT G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	223	0.0045	50	c.-99 others(67): Show c.-99+9506_-99+9507insCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTGCAGCATCTTTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64174598	C C	CTAGTTGT others(43): Show CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0036 a0001c0006t0001g0036	1	223	0.0045	50	c.-99 others(67): Show c.-99+9893_-99+9894insGCAGCATCTTTCCCTGTAGTTGTGTCCA TTTCCCCTCCCTGGCTTCTCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174698	C C	CCTGTAGT others(43): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTGCAGCATCTTTCCCT G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	223	0.0045	50	c.-99 others(67): Show c.-99+9959_-99+9960insCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTGCAGCATCTTTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64174745	C C	CTAGTTGT others(43): Show CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCT G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG02965.hp2 others(3): Show HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03453.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0005	a0001c0001t0002g0142 a0001c0001t0003g0115 a0001c0002t0002g0085 others(3): Show a0001c0001t0002g0142 a0001c0001t0003g0115 a0001c0002t0002g0085 a0001c0002t0002g0101 a0001c0002t0005g0143 a0001c0002t0005g0145	6	223	0.0269	50	c.-99 others(69): Show c.-99+10041_-99+10042insTAGCATCTTTCCCTGTAGTTGTGTCC ATTTCCCCTCCCTGGCTTCTCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174810	T T	TTCCCTCC others(43): Show TTCCCTCCCTGGCGTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATT C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	223	0.0045	50	c.-99 others(69): Show c.-99+10071_-99+10072insTCCCTCCCTGGCGTCTCCTGTAGCAT CTTTCCCTGTAGTTGTGTCCATTC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64174845	G G	GTAGTTGT others(43): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTC C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	223	0.0045	50	c.-99 others(69): Show c.-99+10133_-99+10134insGTCTCCTCCTGCAGCATCTTTCCTAG TTGTGTCCATTTCCCCTCCCTGGC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174881	T T	TAGCATCT others(43): Show TAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTG C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	223	0.0045	50	c.-99 others(69): Show c.-99+10153_-99+10154insTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTCCTGCAGCATCTTTCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175045	G G	GTAGTTGT others(43): Show GTAGTTGTGCCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTC C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	223	0.0045	50	c.-99 others(69): Show c.-99+10314_-99+10315insCCCATTTCCCCTCCCTGACTTCTCCT CCTGCAGCATCTTTCCTAGTTGTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175045	G G	GTAGTTGT others(43): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTC C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00642.hp2 others(24): Show HG00438.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01074.hp2 HG01123.hp1 HG01168.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG02129.hp1 HG02723.hp1 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG04228.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0001c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0002t0002 a0001c0003t0007 a0001c0004t0004 a0001c0013t0005 a0001c0017t0002	a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0068 others(24): Show a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0095 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0001t0003g0075 a0001c0001t0003g0114 a0001c0001t0003g0126 a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0013g0157 a0001c0001t0016g0067 a0001c0002t0002g0056 a0001c0002t0002g0077 a0001c0002t0002g0079 a0001c0002t0002g0088 a0001c0002t0002g0146 a0001c0003t0007g0084 a0001c0004t0004g0139 a0001c0004t0004g0150 a0001c0013t0005g0106 a0001c0017t0002g0046	27	223	0.1211	50	c.-99 others(69): Show c.-99+10333_-99+10334insGTCTCCTCCTGCAGCATCTTTCCTAG TTGTGTCCATTTCCCCTCCCTGGC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175095	G G	GTAGTTGT others(43): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTC C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01361.hp1 HG01346.hp1 HG01361.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0083 a0001c0007t0002g0128 a0001c0007t0002g0083 a0001c0007t0002g0128	2	223	0.0090	50	c.-99 others(69): Show c.-99+10383_-99+10384insGTCTCCTCCTGCAGCATCTTTCCTAG TTGTGTCCATTTCCCCTCCCTGGC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175131	T T	TAGCATCT others(43): Show TAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTG C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	223	0.0045	50	c.-99 others(69): Show c.-99+10403_-99+10404insTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTCCTGCAGCATCTTTCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175213	C C	CCCCCTCC others(43): Show CCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATT T	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19240.hp1 NA20300.hp2 HG02965.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0115 a0001c0002t0002g0085 a0001c0002t0002g0101 a0001c0001t0003g0115 a0001c0002t0002g0085 a0001c0002t0002g0101	3	223	0.0135	50	c.-99 others(69): Show c.-99+10545_-99+10594dupCAGCATCTTTCCCTGTAGTTGTGTCC ATTTCCCCTCCCTGGCTTCTCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175345	C C	CTAGTTGT others(43): Show CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0086 a0001c0006t0001g0086	1	223	0.0045	50	c.-99 others(69): Show c.-99+10642_-99+10691dupCAGCATCTTTCCCTGTAGTTGTGTCC ATTTCCCCTCCCTGGCTTCTCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175683	C C	CCTCCTGC others(43): Show CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0182 a0001c0003t0007g0182	1	223	0.0045	50	c.-99 others(69): Show c.-99+10946_-99+10947insCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar

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