Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MEIKIN_chr5_131801990_131950663	131849356	GAACCTCT others(74): Show GAACCTCTTTTCTTTATATATATAAAGAAACCTCTTTTCTTTATATATAT AAAGAAACCTCTTTTCTTTATATATATAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00639.hp1 others(27): Show HG00438.hp2 HG00609.hp1 HG00639.hp1 HG01081.hp1 HG01123.hp1 HG01516.hp1 HG01891.hp1 HG02148.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03491.hp1 HG04115.hp2 NA18522.hp1 NA18971.hp2 NA18978.hp2 NA18979.hp1 NA18988.hp1 NA19012.hp2 NA19072.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0050 others(27): Show a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0004g0057 a0001c0002t0001g0202 a0001c0002t0001g0299 a0001c0002t0001g0335 a0001c0002t0001g0340 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0310	30	346	0.0867	-81	c.975 others(98): Show c.975+1827_975+1907delTCTTTATATATATAAAGAAAAGAGGTTT CTTTATATATATAAAGAAAAGAGGTTTCTTTATATATATAAAGAAAAGAG GTT	MEIKIN	ENSG00000239642.6	transcript	ENST00000442687.6	protein_coding	11/12			chr5	TogoVar
MICAL3_chr22_17782649_18029561	17876865	GGGAGGTT others(74): Show GGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0001 a0001c0063t0001	a0001c0063t0001g0008 a0001c0063t0001g0008	1	274	0.0037	-81	c.224 others(100): Show c.2242-4923_2242-4843delATAACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAA CCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877295	TAGGGAGG others(74): Show TAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0062 a0002c0062	a0002c0062t0015 a0002c0062t0015	a0002c0062t0015g0078 a0002c0062t0015g0078	1	274	0.0037	-81	c.224 others(100): Show c.2242-5353_2242-5273delCACCTCCCTAACCTCCATAACCTCCC TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACC TCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MITF_chr3_69734464_69973332	69832937	GACTGTAT others(74): Show GACTGTATGTAGTTGTTTCTCTGTTTGCACTGTATGTGATTGTTTCTCTG TTCACACTGTATGTGATTGTTTCTCTGTTCAC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02083.hp1 HG04184.hp1 HG02074.hp1 HG02083.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0015g0125 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0015g0125	3	178	0.0169	-81	c.105 others(100): Show c.105-46187_105-46107delAGTTGTTTCTCTGTTTGCACTGTATG TGATTGTTTCTCTGTTCACACTGTATGTGATTGTTTCTCTGTTCACACTG TATGT	MITF	ENSG00000187098.18	transcript	ENST00000352241.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MLLT10_chr10_21529232_21748630	21717656	CTCCTCCT others(74): Show CTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCTTCCT CCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp1 HG02723.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0085 a0001c0001t0007g0086	2	192	0.0104	-81	c.187 others(100): Show c.1878+3715_1878+3795delTTCCTCCTCCTCTTCCTCCTCCTCCT CCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCTTCC TCCTC	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
MLPH_chr2_237482251_237560322	237544876	GGACAGTG others(74): Show GGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGG GCACAGTAGTGAGTGGGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	286	0.0035	-81	c.154 others(100): Show c.1540-1728_1540-1648delACAGTGGTGAGTGGGGACAGTAATGA GTCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGT GAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLYCD_chr16_83894115_83932031	83918715	AACGCACA others(74): Show AACGCACACACAGTGCACAGAACACAGTGCACAGGAGAACACGCACACAG TGCACAGAGAACCACACAGTGCACAGGAGAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp1 NA19000.hp1 HG02132.hp1 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0133 a0002c0003t0166 a0002c0003t0133 a0002c0003t0166	a0002c0003t0133g0252 a0002c0003t0166g0005 a0002c0003t0133g0252 a0002c0003t0166g0005	2	432	0.0046	-81	c.32 others(92): Show c.3253_*3333delTGCACAGGAGAACACGCACACAGTGCACAGAGAA CCACACAGTGCACAGGAGAATACGCACACACAGTGCACAGAACACAG	MLYCD	ENSG00000103150.7	transcript	ENST00000262430.6	protein_coding	5/5	3253	INFO_REALIGN_3_PRIME	chr16	TogoVar
MMP26_chr11_4699784_4997429	4861197	TAGATACA others(74): Show TAGATACATACAGTTTCCAAGTATATACATATAGAAGTATATATCTATAC AGAAGTTTATACATATAGATACATATACATGC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	206	0.0049	-81	c.-14 others(102): Show c.-145+93889_-145+93969delGAAGTATATATCTATACAGAAGTT TATACATATAGATACATATACATGCAGATACATACAGTTTCCAAGTATAT ACATATA	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MPPED1_chr22_43407014_43512848	43495818	GTGGTGGT others(74): Show GTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGA GATGGTGGTGGTGGAGGTAGTGGTGGTGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0069 a0001c0007t0008g0069	1	250	0.0040	-81	c.633 others(98): Show c.633-2387_633-2307delATGGTGGTGGTGGTGGTGGAGATGGTGG TGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTG GAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496677	AGATGGTG others(74): Show AGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTG GTGGAAGTGGTGGTGGTGGAGGTAGTGGTGGT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0233 a0001c0002t0003g0233	1	250	0.0040	-81	c.633 others(98): Show c.633-1556_633-1476delATGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTAGTGGTGGTGGAAGTGGTGGTGGTGGAGGTAGTGGTG GTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499921	TGGTGGTG others(74): Show TGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0212 a0001c0003t0027g0212	1	250	0.0040	-81	c.748 others(98): Show c.748+1603_748+1683delGTGATGGAGGTGGTGATGGGGGTGGTGG TGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTG GTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH6_chr8_143561192_143577772	143575769	GGGTGGGG others(74): Show GGGTGGGGAAGGAGGTGGCACTGCCCTGGGTGGGGAAGGGGGTGGCAGTG CCCTGGGTGGGGAAGGAGGTGCCAGTGCCCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp2 others(138): Show HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01175.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp2 NA18987.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0012 a0019 a0020 a0023 a0028 a0031 a0032 a0033 a0034	a0001c0001 a0001c0008 a0001c0015 others(20): Show a0001c0001 a0001c0008 a0001c0015 a0001c0034 a0001c0037 a0002c0051 a0003c0003 a0004c0031 a0005c0006 a0005c0012 a0008c0018 a0009c0010 a0009c0025 a0010c0011 a0012c0014 a0019c0032 a0020c0039 a0023c0038 a0028c0024 a0031c0033 a0032c0029 a0033c0036 a0034c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0008t0001 a0001c0008t0011 a0001c0015t0008 a0001c0034t0002 a0001c0037t0001 a0002c0051t0002 a0003c0003t0001 a0004c0031t0003 a0005c0006t0005 a0005c0012t0008 a0008c0018t0003 a0009c0010t0001 a0009c0010t0017 a0009c0025t0020 a0010c0011t0001 a0012c0014t0005 a0019c0032t0001 a0020c0039t0016 a0023c0038t0001 a0028c0024t0001 a0031c0033t0003 a0032c0029t0001 a0033c0036t0013 a0034c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0028 others(52): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0004g0019 a0001c0001t0006g0009 a0001c0001t0007g0114 a0001c0001t0009g0088 a0001c0001t0009g0094 a0001c0001t0010g0041 a0001c0001t0011g0119 a0001c0001t0013g0099 a0001c0001t0015g0098 a0001c0008t0001g0022 a0001c0008t0001g0127 a0001c0008t0001g0129 a0001c0008t0001g0130 a0001c0008t0011g0128 a0001c0015t0008g0115 a0001c0015t0008g0116 a0001c0034t0002g0103 a0001c0037t0001g0131 a0002c0051t0002g0169 a0003c0003t0001g0007 a0003c0003t0001g0060 a0004c0031t0003g0118 a0005c0006t0005g0021 a0005c0006t0005g0109 a0005c0012t0008g0030 a0008c0018t0003g0037 a0009c0010t0001g0084 a0009c0010t0017g0081 a0009c0025t0020g0079 a0010c0011t0001g0020 a0012c0014t0005g0035 a0019c0032t0001g0097 a0020c0039t0016g0147 a0023c0038t0001g0132 a0028c0024t0001g0080 a0031c0033t0003g0091 a0032c0029t0001g0096 a0033c0036t0013g0100 a0034c0026t0001g0093	141	437	0.3227	-81	c.-31 others(92): Show c.-3136_-3056delTAGGGCACTGGCACCTCCTTCCCCACCCAGGGCA CTGCCACCCCCTTCCCCACCCAGGGCAGTGCCACCTCCTTCCCCACC	MROH6	ENSG00000204839.9	transcript	ENST00000398882.8	protein_coding		2998		chr8	TogoVar
MSRB2_chr10_23090579_23127013	23111785	CAATTTAA others(74): Show CAATTTAATTTTAATTAATTTAAACTTAAATTTAATTTTAATTAATTTAA ACTTAAATTTAATTTTAATTAATTTAAACTTA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp1 HG02809.hp2 others(7): Show HG02280.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03471.hp2 HG04199.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0016 a0001c0001t0001g0108 a0001c0001t0001g0111 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0141 a0001c0002t0002g0036	10	442	0.0226	-81	c.296 others(98): Show c.296+1521_296+1601delAAATTTAATTTTAATTAATTTAAACTTA AATTTAATTTTAATTAATTTAAACTTAAATTTAATTTTAATTAATTTAAA CTT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MTNR1A_chr4_186528655_186560567	186546654	GCCACCCA others(74): Show GCCACCCACATCACACCCTGTTCATGCCACCCACACCACACCTGTTCATA CAACACACCATCCACACCACACCCTGTTCATA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02109.hp1 HG02451.hp2 others(3): Show HG00733.hp1 HG02109.hp1 HG02451.hp2 HG03540.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0003t0001g0061 others(3): Show a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0003t0001g0061 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071	6	396	0.0152	-81	c.184 others(98): Show c.184+8447_184+8527delTATGAACAGGGTGTGGTGTGGATGGTGT GTTGTATGAACAGGTGTGGTGTGGGTGGCATGAACAGGGTGTGATGTGGG TGG	MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1			chr4	TogoVar
MYO9A_chr15_71817291_72123150	71900316	GTCCCAGC others(74): Show GTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAG CTGGAGCTTGCAGTGAGCAGAATTCACGCCAC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01934.hp1 HG01952.hp2 others(5): Show HG01361.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02273.hp2 HG02559.hp2 NA18906.hp2 NA19043.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0060 a0005c0005t0008 a0005c0005t0060	a0005c0005t0008g0300 a0005c0005t0008g0302 a0005c0005t0008g0303 others(5): Show a0005c0005t0008g0300 a0005c0005t0008g0302 a0005c0005t0008g0303 a0005c0005t0008g0304 a0005c0005t0008g0305 a0005c0005t0008g0306 a0005c0005t0008g0307 a0005c0005t0060g0301	8	308	0.0260	-81	c.315 others(98): Show c.3151-391_3151-311delGTGGCGTGAATTCTGCTCACTGCAAGCT CCAGCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	23/41			chr15	TogoVar
MYOM2_chr8_2040046_2150456	2086052	AGTCGTGA others(74): Show AGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCC CCACTGTTGTGATCTCTTTGTGGCCCCCCACT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03540.hp1 NA18747.hp1 others(1): Show HG02486.hp1 HG03540.hp1 NA18747.hp1 NA18940.hp2	a0001 a0019 a0020 others(1): Show a0001 a0019 a0020 a0057	a0001c0023 a0019c0028 a0020c0058 others(1): Show a0001c0023 a0019c0028 a0020c0058 a0057c0179	a0001c0023t0001 a0019c0028t0001 a0020c0058t0002 others(1): Show a0001c0023t0001 a0019c0028t0001 a0020c0058t0002 a0057c0179t0001	a0001c0023t0001g0391 a0019c0028t0001g0164 a0020c0058t0002g0185 others(1): Show a0001c0023t0001g0391 a0019c0028t0001g0164 a0020c0058t0002g0185 a0057c0179t0001g0082	4	403	0.0099	-81	c.164 others(98): Show c.1644+675_1644+755delTTGTGGCCCCCTACTGTCGTGATCTCTG CGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATC TCT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086288	CGTGATCT others(74): Show CGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCA CTGTTGTGATCTCTGCGTGGCCTCCCACTGTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02572.hp2 others(11): Show HG02109.hp1 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0029 a0031 a0032 a0036	a0001c0023 a0001c0128 a0002c0037 others(8): Show a0001c0023 a0001c0128 a0002c0037 a0002c0096 a0002c0129 a0002c0147 a0004c0153 a0029c0127 a0031c0134 a0032c0054 a0036c0132	a0001c0023t0001 a0001c0128t0001 a0002c0037t0001 others(8): Show a0001c0023t0001 a0001c0128t0001 a0002c0037t0001 a0002c0096t0001 a0002c0129t0001 a0002c0147t0002 a0004c0153t0001 a0029c0127t0001 a0031c0134t0001 a0032c0054t0001 a0036c0132t0001	a0001c0023t0001g0137 a0001c0023t0001g0385 a0001c0023t0001g0391 others(11): Show a0001c0023t0001g0137 a0001c0023t0001g0385 a0001c0023t0001g0391 a0001c0128t0001g0386 a0002c0037t0001g0047 a0002c0096t0001g0209 a0002c0129t0001g0393 a0002c0147t0002g0392 a0004c0153t0001g0126 a0029c0127t0001g0398 a0031c0134t0001g0048 a0032c0054t0001g0005 a0032c0054t0001g0066 a0036c0132t0001g0074	14	403	0.0347	-81	c.164 others(98): Show c.1644+907_1644+987delCGCGTGGCCCCCCACAGTCGTGATCTCT GCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGAT CTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086297	CGCGTGGC others(74): Show CGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGA TCTCTGCGTGGCCTCCCACTGTTGTGATCTCT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19066.hp2 NA18954.hp1 NA19066.hp2	a0003 a0014 a0003 a0014	a0003c0001 a0014c0114 a0003c0001 a0014c0114	a0003c0001t0001 a0014c0114t0001 a0003c0001t0001 a0014c0114t0001	a0003c0001t0001g0131 a0014c0114t0001g0381 a0003c0001t0001g0131 a0014c0114t0001g0381	2	403	0.0050	-81	c.164 others(98): Show c.1644+916_1644+996delCCCCACAGTCGTGATCTCTGCGTGGCCC CCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTG GCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086306	CCCCACAG others(74): Show CCCCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGT GGCCTCCCACTGTTGTGATCTCTGCGTGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00741.hp2 others(56): Show HG00140.hp2 HG00544.hp1 HG00741.hp2 HG01081.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02809.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG04228.hp1 NA18522.hp1 NA18941.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18972.hp2 NA18979.hp1 NA18987.hp2 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19082.hp1 NA19084.hp1 NA20752.hp2	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0012 a0013 a0021 a0030 a0039 a0040 a0046 a0049 a0050 a0054 a0055 a0070 a0071 a0080	a0001c0002 a0001c0003 a0001c0009 others(35): Show a0001c0002 a0001c0003 a0001c0009 a0001c0014 a0001c0024 a0001c0091 a0001c0118 a0001c0137 a0001c0138 a0002c0015 a0002c0017 a0002c0025 a0002c0033 a0002c0041 a0002c0045 a0002c0086 a0003c0001 a0004c0007 a0005c0142 a0006c0013 a0006c0205 a0007c0089 a0010c0206 a0010c0207 a0012c0030 a0013c0181 a0021c0066 a0030c0188 a0039c0046 a0040c0052 a0046c0087 a0049c0115 a0050c0169 a0054c0136 a0055c0112 a0070c0085 a0071c0193 a0080c0203	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(39): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0009t0001 a0001c0014t0001 a0001c0024t0002 a0001c0091t0001 a0001c0118t0002 a0001c0137t0002 a0001c0138t0001 a0002c0015t0001 a0002c0017t0001 a0002c0025t0001 a0002c0033t0001 a0002c0041t0001 a0002c0045t0002 a0002c0086t0006 a0003c0001t0001 a0004c0007t0001 a0005c0142t0001 a0006c0013t0001 a0006c0205t0001 a0007c0089t0001 a0010c0206t0001 a0010c0207t0001 a0012c0030t0002 a0013c0181t0001 a0021c0066t0005 a0030c0188t0001 a0039c0046t0001 a0039c0046t0002 a0040c0052t0002 a0046c0087t0002 a0049c0115t0001 a0050c0169t0001 a0054c0136t0001 a0055c0112t0001 a0070c0085t0002 a0071c0193t0001 a0080c0203t0001	a0001c0002t0001g0013 a0001c0002t0001g0216 a0001c0002t0001g0322 others(55): Show a0001c0002t0001g0013 a0001c0002t0001g0216 a0001c0002t0001g0322 a0001c0002t0001g0324 a0001c0002t0002g0001 a0001c0002t0002g0021 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0003t0001g0014 a0001c0003t0001g0020 a0001c0003t0001g0198 a0001c0003t0001g0213 a0001c0003t0001g0309 a0001c0003t0001g0362 a0001c0003t0001g0372 a0001c0003t0002g0368 a0001c0009t0001g0204 a0001c0014t0001g0329 a0001c0024t0002g0025 a0001c0024t0002g0302 a0001c0091t0001g0328 a0001c0118t0002g0320 a0001c0137t0002g0299 a0001c0138t0001g0311 a0002c0015t0001g0142 a0002c0017t0001g0233 a0002c0025t0001g0298 a0002c0033t0001g0108 a0002c0041t0001g0084 a0002c0045t0002g0250 a0002c0045t0002g0272 a0002c0086t0006g0190 a0003c0001t0001g0200 a0004c0007t0001g0262 a0004c0007t0001g0263 a0004c0007t0001g0284 a0005c0142t0001g0255 a0006c0013t0001g0158 a0006c0205t0001g0187 a0007c0089t0001g0226 a0010c0206t0001g0154 a0010c0207t0001g0150 a0012c0030t0002g0300 a0013c0181t0001g0388 a0021c0066t0005g0274 a0030c0188t0001g0056 a0039c0046t0001g0197 a0039c0046t0002g0196 a0040c0052t0002g0063 a0040c0052t0002g0064 a0046c0087t0002g0228 a0049c0115t0001g0203 a0050c0169t0001g0019 a0054c0136t0001g0171 a0055c0112t0001g0244 a0070c0085t0002g0034 a0071c0193t0001g0182 a0080c0203t0001g0149	59	403	0.1464	-81	c.164 others(99): Show c.1644+922_1644+1002delAGTCGTGATCTCTGCGTGGCCCCCCAC TGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCTC CCAC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086315	CGTGATCT others(74): Show CGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCTCCCA CTGTTGTGATCTCTGCGTGGCCTCCCACTGTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00597.hp1 others(99): Show HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00735.hp1 HG01069.hp1 HG01081.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02818.hp1 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03516.hp1 HG03654.hp2 HG03831.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18983.hp2 NA18993.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19082.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(36): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0019 a0020 a0021 a0023 a0028 a0029 a0030 a0037 a0038 a0052 a0056 a0057 a0059 a0061 a0062 a0063 a0064 a0069 a0072 a0077 a0078 a0082 a0085 a0086	a0001c0002 a0001c0003 a0001c0020 others(62): Show a0001c0002 a0001c0003 a0001c0020 a0001c0024 a0001c0039 a0001c0065 a0001c0095 a0001c0140 a0001c0145 a0002c0006 a0002c0015 a0002c0034 a0002c0042 a0002c0048 a0002c0098 a0002c0121 a0002c0122 a0002c0123 a0003c0004 a0005c0005 a0005c0101 a0005c0146 a0006c0013 a0006c0198 a0006c0201 a0007c0010 a0007c0100 a0008c0008 a0009c0012 a0010c0056 a0010c0196 a0011c0011 a0012c0030 a0012c0080 a0013c0182 a0014c0044 a0015c0173 a0016c0057 a0016c0197 a0016c0209 a0019c0028 a0020c0058 a0021c0043 a0023c0021 a0028c0174 a0028c0175 a0029c0094 a0030c0189 a0037c0170 a0038c0050 a0052c0126 a0056c0185 a0057c0179 a0059c0148 a0061c0099 a0062c0119 a0063c0150 a0064c0083 a0069c0064 a0072c0155 a0077c0111 a0078c0202 a0082c0200 a0085c0135 a0086c0082	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(69): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0020t0001 a0001c0024t0002 a0001c0039t0001 a0001c0065t0001 a0001c0095t0001 a0001c0140t0001 a0001c0145t0002 a0002c0006t0001 a0002c0015t0001 a0002c0034t0001 a0002c0042t0001 a0002c0042t0002 a0002c0048t0003 a0002c0098t0001 a0002c0121t0006 a0002c0122t0001 a0002c0123t0001 a0003c0004t0001 a0005c0005t0001 a0005c0005t0002 a0005c0005t0004 a0005c0101t0007 a0005c0146t0004 a0006c0013t0001 a0006c0013t0005 a0006c0198t0001 a0006c0201t0005 a0007c0010t0001 a0007c0100t0001 a0008c0008t0001 a0009c0012t0001 a0010c0056t0002 a0010c0196t0001 a0011c0011t0001 a0012c0030t0002 a0012c0080t0001 a0013c0182t0002 a0014c0044t0001 a0015c0173t0002 a0016c0057t0001 a0016c0197t0001 a0016c0209t0004 a0019c0028t0001 a0020c0058t0001 a0020c0058t0002 a0021c0043t0001 a0023c0021t0001 a0028c0174t0001 a0028c0175t0001 a0029c0094t0001 a0030c0189t0001 a0037c0170t0001 a0038c0050t0001 a0052c0126t0001 a0056c0185t0001 a0057c0179t0001 a0059c0148t0002 a0061c0099t0001 a0062c0119t0001 a0063c0150t0001 a0064c0083t0004 a0069c0064t0001 a0072c0155t0001 a0077c0111t0002 a0078c0202t0001 a0082c0200t0001 a0085c0135t0001 a0086c0082t0001	a0001c0002t0001g0097 a0001c0002t0001g0220 a0001c0002t0001g0303 others(99): Show a0001c0002t0001g0097 a0001c0002t0001g0220 a0001c0002t0001g0303 a0001c0002t0002g0371 a0001c0002t0003g0096 a0001c0003t0002g0361 a0001c0020t0001g0030 a0001c0020t0001g0052 a0001c0024t0002g0332 a0001c0039t0001g0363 a0001c0065t0001g0125 a0001c0095t0001g0031 a0001c0140t0001g0181 a0001c0145t0002g0364 a0002c0006t0001g0120 a0002c0015t0001g0122 a0002c0015t0001g0136 a0002c0034t0001g0349 a0002c0034t0001g0384 a0002c0042t0001g0315 a0002c0042t0002g0135 a0002c0048t0003g0128 a0002c0048t0003g0199 a0002c0098t0001g0208 a0002c0121t0006g0075 a0002c0122t0001g0193 a0002c0123t0001g0192 a0003c0004t0001g0319 a0003c0004t0001g0325 a0003c0004t0001g0326 a0003c0004t0001g0327 a0005c0005t0001g0143 a0005c0005t0001g0210 a0005c0005t0001g0240 a0005c0005t0001g0288 a0005c0005t0001g0293 a0005c0005t0001g0297 a0005c0005t0001g0317 a0005c0005t0002g0301 a0005c0005t0004g0281 a0005c0005t0004g0287 a0005c0101t0007g0079 a0005c0146t0004g0105 a0006c0013t0001g0152 a0006c0013t0001g0155 a0006c0013t0005g0146 a0006c0198t0001g0163 a0006c0201t0005g0168 a0007c0010t0001g0100 a0007c0010t0001g0313 a0007c0010t0001g0314 a0007c0010t0001g0367 a0007c0100t0001g0337 a0008c0008t0001g0104 a0008c0008t0001g0177 a0008c0008t0001g0178 a0008c0008t0001g0179 a0008c0008t0001g0245 a0009c0012t0001g0374 a0010c0056t0002g0159 a0010c0196t0001g0092 a0011c0011t0001g0042 a0011c0011t0001g0224 a0012c0030t0002g0211 a0012c0080t0001g0387 a0013c0182t0002g0069 a0014c0044t0001g0234 a0014c0044t0001g0357 a0015c0173t0002g0024 a0016c0057t0001g0156 a0016c0057t0001g0165 a0016c0197t0001g0051 a0016c0209t0004g0161 a0019c0028t0001g0164 a0019c0028t0001g0172 a0019c0028t0001g0186 a0020c0058t0001g0157 a0020c0058t0002g0185 a0021c0043t0001g0239 a0023c0021t0001g0223 a0028c0174t0001g0061 a0028c0175t0001g0060 a0029c0094t0001g0029 a0030c0189t0001g0059 a0037c0170t0001g0275 a0038c0050t0001g0103 a0038c0050t0001g0347 a0052c0126t0001g0018 a0056c0185t0001g0067 a0057c0179t0001g0082 a0059c0148t0002g0035 a0061c0099t0001g0397 a0062c0119t0001g0343 a0063c0150t0001g0036 a0064c0083t0004g0132 a0069c0064t0001g0070 a0072c0155t0001g0268 a0077c0111t0002g0353 a0078c0202t0001g0166 a0082c0200t0001g0151 a0085c0135t0001g0231 a0086c0082t0001g0260	102	403	0.2531	-81	c.164 others(99): Show c.1644+943_1644+1023delCCCCACTGTTGTGATCTCTGCGTGGCC TCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGT GGCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086407	CGTGGCCT others(74): Show CGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCCCCTACTGTCGTGATC TCCACGTGGCCACACACTGTCATGATCTCTGT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0081 a0081	a0081c0172 a0081c0172	a0081c0172t0001 a0081c0172t0001	a0081c0172t0001g0033 a0081c0172t0001g0033	1	403	0.0025	-81	c.164 others(100): Show c.1644+1024_1644+1104delTCCCACTGTTGTGATCTCTGCGTGGC CCCCTACTGTCGTGATCTCCACGTGGCCACACACTGTCATGATCTCTGTG TGGCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086414	TCCCACTG others(74): Show TCCCACTGTTGTGATCTCTGCGTGGCCCCCTACTGTCGTGATCTCCACGT GGCCACACACTGTCATGATCTCTGTGTGGCCC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0085 a0002c0006t0001g0085	1	403	0.0025	-81	c.164 others(100): Show c.1644+1033_1644+1113delTGTGATCTCTGCGTGGCCCCCTACTG TCGTGATCTCCACGTGGCCACACACTGTCATGATCTCTGTGTGGCCCCCC ACTGT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64220781	GGGGTGGG others(74): Show GGGGTGGGGCTAGGCCCCTATGAAGGGTGGGGGCTGGATCAGGCCCCTAT GAAGGGTAGGGGCTGGATCAGGCCCCTATGAA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp2 HG01070.hp2 others(28): Show HG00597.hp1 HG00733.hp2 HG01070.hp2 HG01074.hp2 HG01123.hp1 HG01346.hp2 HG01361.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG02040.hp2 HG02074.hp2 HG02129.hp2 HG02280.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03490.hp1 HG03540.hp2 HG03669.hp2 HG03942.hp2 NA18906.hp2 NA18971.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 others(6): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0025 a0001c0002t0002 a0001c0003t0007 a0001c0004t0004 a0001c0006t0015	a0001c0001t0003g0072 a0001c0001t0003g0116 a0001c0001t0003g0164 others(28): Show a0001c0001t0003g0072 a0001c0001t0003g0116 a0001c0001t0003g0164 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0013g0011 a0001c0001t0013g0022 a0001c0001t0014g0017 a0001c0001t0014g0092 a0001c0001t0016g0039 a0001c0001t0016g0067 a0001c0001t0025g0104 a0001c0002t0002g0047 a0001c0002t0002g0079 a0001c0002t0002g0140 a0001c0002t0002g0146 a0001c0002t0002g0178 a0001c0003t0007g0084 a0001c0004t0004g0013 a0001c0004t0004g0031 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0004t0004g0078 a0001c0004t0004g0113 a0001c0004t0004g0139 a0001c0004t0004g0144 a0001c0004t0004g0150 a0001c0004t0004g0196 a0001c0004t0004g0213 a0001c0006t0015g0110	31	223	0.1390	-81	c.224 others(98): Show c.2241+808_2241+888delCTAGGCCCCTATGAAGGGTGGGGGCTGG ATCAGGCCCCTATGAAGGGTAGGGGCTGGATCAGGCCCCTATGAAGGGTG GGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NAPRT_chr8_143569785_143583330	143575769	GGGTGGGG others(74): Show GGGTGGGGAAGGAGGTGGCACTGCCCTGGGTGGGGAAGGGGGTGGCAGTG CCCTGGGTGGGGAAGGAGGTGCCAGTGCCCTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(136): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01175.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18985.hp2 NA18987.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0007 a0008 a0010 a0011	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0010 a0002c0005 a0004c0013 a0007c0018 a0008c0020 a0010c0019 a0011c0014	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0007t0001 a0001c0010t0002 a0002c0005t0001 a0004c0013t0001 a0007c0018t0002 a0008c0020t0001 a0010c0019t0001 a0011c0014t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0002t0001g0044 a0001c0004t0002g0022 a0001c0007t0001g0011 a0001c0010t0002g0021 a0002c0005t0001g0010 a0002c0005t0001g0070 a0002c0005t0001g0071 a0004c0013t0001g0032 a0007c0018t0002g0049 a0008c0020t0001g0043 a0010c0019t0001g0042 a0011c0014t0002g0046	139	403	0.3449	-81	c.110 others(97): Show c.1108-148_1108-68delTAGGGCACTGGCACCTCCTTCCCCACCCA GGGCACTGCCACCCCCTTCCCCACCCAGGGCAGTGCCACCTCCTTCCCCA CC	NAPRT	ENSG00000147813.16	transcript	ENST00000449291.7	protein_coding	8/12			chr8	TogoVar
NARF_chr17_82453741_82495537	82489119	CCCATTCC others(74): Show CCCATTCCTCACAGCCAGTCACCACCCTCCTCCCATTCCTCACAGCCAGT CACCACCCTCCTGGACCATACTCGGCCCTGGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02040.hp1 HG02109.hp2 others(11): Show HG01884.hp1 HG02040.hp1 HG02109.hp2 HG02273.hp2 HG02559.hp1 HG02723.hp1 HG02738.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03942.hp2 HG04184.hp2 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0004 a0001c0002t0026 a0001c0002t0027 others(2): Show a0001c0002t0004 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0003c0006t0004	a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0135 others(8): Show a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0135 a0001c0002t0004g0139 a0001c0002t0004g0143 a0001c0002t0004g0150 a0001c0002t0004g0151 a0001c0002t0026g0021 a0001c0002t0027g0152 a0001c0002t0028g0145 a0003c0006t0004g0112	14	356	0.0393	-81	c.10 others(92): Show c.1030_*1110delTACTCGGCCCTGGGCCATTCCTCACAGCCAGTCA CCACCCTCCTCCCATTCCTCACAGCCAGTCACCACCCTCCTGGACCA	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding	11/11	1030	INFO_REALIGN_3_PRIME	chr17	TogoVar
NDUFA13_chr19_19511225_19533198	19522358	TTTTGTCA others(74): Show TTTTGTCACTTGTGCTTCTGGTGTCATATCTAAGAAACCTAGTTTGAGGT CACAGAGAGTGACTTACATTTTCTTCTAAGAG	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0193 a0001c0001t0001g0194	2	380	0.0053	-81	c.95- others(96): Show c.95-3822_95-3742delTTGTCACTTGTGCTTCTGGTGTCATATCTA AGAAACCTAGTTTGAGGTCACAGAGAGTGACTTACATTTTCTTCTAAGAG T	NDUFA13	ENSG00000186010.19	transcript	ENST00000507754.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
NEDD4L_chr18_58039226_58406539	58171357	CCCGCCTC others(74): Show CCCGCCTCATCACCCCAGCCCAAGGGGACAGGACACTGCTGCCCGCCTCA TCACCCCAGCCCAAGAGGACAGAACACTGCTG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0082 a0001c0001t0031g0082	1	118	0.0085	-81	c.122 others(98): Show c.122+5499_122+5579delGCCTCATCACCCCAGCCCAAGGGGACAG GACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCT GCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEU4_chr2_241804193_241822413	241807534	CCCCCCTC others(74): Show CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCTTCCCTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0102 a0001c0004t0001g0102	1	319	0.0031	-81	c.-17 others(92): Show c.-1743_-1663delCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1658		chr2	TogoVar
NFATC2_chr20_51381963_51547719	51422956	TAGCGCTG others(74): Show TAGCGCTGATATTAGAAAGTTATGTAGATTTTTTAACATTATGATATTCT GGCTGGGCACAGTGGCTCACGCTTATAATCCC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0030 a0002c0006t0002g0030	1	316	0.0032	-81	c.272 others(100): Show c.2722+9030_2722+9110delGGGATTATAAGCGTGAGCCACTGTGC CCAGCCAGAATATCATAATGTTAAAAAATCTACATAACTTTCTAATATCA GCGCT	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	9/10			chr20	TogoVar
NGB_chr14_77260483_77276206	77269721	TCTCTCTT others(74): Show TCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCCCTCTCCCTCTCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02145.hp1 NA18960.hp2 others(1): Show HG01169.hp2 HG02145.hp1 NA18960.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0036 a0001c0001t0001g0119 a0001c0001t0004g0122 a0001c0001t0001g0036 a0001c0001t0001g0119 a0001c0001t0004g0122	4	366	0.0109	-81	c.90- others(94): Show c.90-476_90-396delGGGGGGGGAGAGGGAGAGGGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGB_chr14_77260483_77276206	77269723	TCTCTTCT others(74): Show TCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCCCTCTCCCTCTCCCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02071.hp1 NA21309.hp2 HG01928.hp2 HG02071.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	3	366	0.0082	-81	c.90- others(94): Show c.90-478_90-398delGGGGGGGGGGAGAGGGAGAGGGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NKD2_chr5_1003802_1043943	1022996	TGTGGGCG others(74): Show TGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CCCAGCCCATTGTCCCTGCTCTTCCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01168.hp2 HG02132.hp1 others(4): Show HG00408.hp1 HG01168.hp2 HG02132.hp1 HG02258.hp2 NA18965.hp2 NA18984.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 a0001c0001t0001 a0001c0001t0002 a0001c0012t0001	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0044 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0002g0042 a0001c0012t0001g0012	7	319	0.0219	-81	c.142 others(98): Show c.142-9155_142-9075delGTGGGCGTCCCAGCCCGTTGTCCCTGCT CTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACC CTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023119	TGTGGGCG others(74): Show TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCAT CCCAGCCCATTGTCCCTGCTCTTCCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01358.hp2 HG02135.hp1 others(2): Show HG00099.hp1 HG01358.hp2 HG02135.hp1 NA18965.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0048 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0223	5	319	0.0157	-81	c.142 others(98): Show c.142-9032_142-8952delGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCGCTGTGGGCATCCCAGCCCATTGTCCCTGCTCTTCCCACC CTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023406	TGTGGGCG others(74): Show TGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02622.hp1 HG02735.hp1 others(7): Show HG01515.hp1 HG02622.hp1 HG02735.hp1 HG03834.hp1 NA18747.hp2 NA18951.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0126 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0126 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0005g0095 a0001c0001t0006g0265 a0001c0001t0012g0119 a0001c0010t0001g0187	10	319	0.0314	-81	c.142 others(98): Show c.142-8745_142-8665delGTGGGCGTCCCAGCCCATTGTCCCTGCT CTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACC CGC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023447	TGTGGGCG others(74): Show TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CTCAGCCCGTTGTCTCTGCTCTTCCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	319	0.0031	-81	c.142 others(98): Show c.142-8704_142-8624delGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCTCTGCTCTTCCCACC CTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023488	TGTGGGCG others(74): Show TGTGGGCGTCTCAGCCCGTTGTCTCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00558.hp1 others(29): Show HG00099.hp2 HG00140.hp2 HG00558.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01109.hp1 HG01256.hp1 HG01258.hp2 HG01515.hp2 HG02027.hp2 HG02056.hp2 HG02145.hp2 HG02148.hp1 HG02683.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03453.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18960.hp2 NA18992.hp1 NA18999.hp2 NA19002.hp2 NA19007.hp2 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0015 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0003g0013 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0005g0081 a0001c0001t0006g0269 a0002c0003t0001g0034 a0002c0003t0001g0211	32	319	0.1003	-81	c.142 others(98): Show c.142-8663_142-8583delGTGGGCGTCTCAGCCCGTTGTCTCTGCT CTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACC CGC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023693	TGTGGGCG others(74): Show TGTGGGCGTCTCAGCCCATTGCCCCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCATTGTCCCTGCTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp2 HG01168.hp2 others(16): Show HG00408.hp1 HG01074.hp2 HG01168.hp2 HG01261.hp2 HG01515.hp1 HG01978.hp1 HG02132.hp1 HG02258.hp2 HG02622.hp1 HG02735.hp1 NA18747.hp2 NA18951.hp2 NA18965.hp2 NA18984.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0012 a0001c0001 a0001c0010 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0010t0001 a0001c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0126 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0219 a0001c0001t0001g0234 a0001c0001t0002g0042 a0001c0001t0012g0119 a0001c0010t0001g0187 a0001c0012t0001g0012	19	319	0.0596	-81	c.142 others(98): Show c.142-8458_142-8378delGTGGGCGTCTCAGCCCATTGCCCCTGCT CTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACT CTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023980	TGTGGGTG others(74): Show TGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CCCAGCCCGTTGTCCCTGCTCTTCCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02109.hp2 HG02572.hp1 others(14): Show HG02040.hp2 HG02109.hp2 HG02572.hp1 HG02698.hp1 HG02970.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp2 HG04184.hp2 NA18942.hp1 NA18973.hp1 NA18986.hp2 NA19011.hp2 NA19054.hp2 NA19065.hp1 NA19079.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0002 a0002c0003t0002 a0003c0004t0001 others(1): Show a0001c0001t0002 a0002c0003t0002 a0003c0004t0001 a0003c0004t0025	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0030 others(13): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0192 a0002c0003t0002g0019 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0025g0102	17	319	0.0533	-81	c.142 others(98): Show c.142-8171_142-8091delGTGGGTGTCCCAGCCCTTTGTCCCTGCT CTTCCCACCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACC CTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1024103	TGTGGGCG others(74): Show TGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCATTGTCCCTGCTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	319	0.0031	-81	c.142 others(98): Show c.142-8048_142-7968delGTGGGCGTCCCAGCCCATTGTCCCTGCT CTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACT CTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1024267	TGTGGGCG others(74): Show TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CCCAGCCCGTTGTCCCTGCTCTTCCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0006 a0004c0007t0006	a0004c0007t0006g0079 a0004c0007t0006g0079	1	319	0.0031	-81	c.142 others(98): Show c.142-7884_142-7804delGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACC CTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1024308	TGTGGGCG others(74): Show TGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCATTGTCCCTGCTCTTCCCACCCGC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0017 a0006c0013t0017	a0006c0013t0017g0098 a0006c0013t0017g0098	1	319	0.0031	-81	c.142 others(98): Show c.142-7843_142-7763delGTGGGCGTCCCAGCCCGTTGTCCCTGCT CTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACC CGC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1024759	TGTGGGCG others(74): Show TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CCCAGCCCTTTGTCCCTGCTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0265 a0001c0001t0006g0265	1	319	0.0031	-81	c.142 others(98): Show c.142-7392_142-7312delGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACT CTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1025005	TGTGGGCG others(74): Show TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGT CCCAGCCCGTTGTCCCTGCTCTTCCCACCCGC	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	319	0.0031	-81	c.142 others(98): Show c.142-7146_142-7066delGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACC CGC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NLRP4_chr19_55831540_55886855	55851472	AGGCTGCG others(74): Show AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATTTACCGAGGCTGCGGTGTAATGTCCGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp1 HG02965.hp2 others(5): Show HG02145.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 others(3): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0028 a0001c0005t0005 a0002c0002t0009	a0001c0001t0004g0347 a0001c0001t0008g0352 a0001c0001t0008g0353 others(5): Show a0001c0001t0004g0347 a0001c0001t0008g0352 a0001c0001t0008g0353 a0001c0001t0008g0363 a0001c0001t0011g0351 a0001c0001t0028g0326 a0001c0005t0005g0350 a0002c0002t0009g0354	8	424	0.0189	-81	c.-65 others(96): Show c.-65-524_-65-444delTGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATTTACCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCC G	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOX4_chr11_89319353_89496375	89438598	AATACTAT others(74): Show AATACTATATATAATATATAGTATATATTATATACTATATATAATACTCT ATATAATATATACTATATATTATATACTATAT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0180 a0001c0003t0005g0180	1	288	0.0035	-81	c.475 others(98): Show c.475+2009_475+2089delATATAGTATATAATATATAGTATATATT ATATAGAGTATTATATATAGTATATAATATATACTATATATTATATATAG TAT	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	6/17			chr11	TogoVar
NOX4_chr11_89319353_89496375	89438816	TATTATAT others(74): Show TATTATATAATATCTTATATATTATATATATTATATAATATATTATATAT TATATATATAATATATAATATATTATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02486.hp2 others(13): Show HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp1 NA18906.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0001t0023 a0001c0001t0037 a0001c0001t0085 a0001c0001t0103 a0001c0001t0106 a0001c0001t0107 a0001c0001t0115 a0001c0008t0002	a0001c0001t0002g0224 a0001c0001t0002g0254 a0001c0001t0002g0255 others(13): Show a0001c0001t0002g0224 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0279 a0001c0001t0002g0283 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0017g0165 a0001c0001t0023g0161 a0001c0001t0037g0280 a0001c0001t0085g0179 a0001c0001t0103g0272 a0001c0001t0106g0228 a0001c0001t0107g0225 a0001c0001t0115g0253 a0001c0008t0002g0275	16	288	0.0556	-81	c.475 others(98): Show c.475+1791_475+1871delTAATATATAATATATTATATATTATATA TATAATATATAATATATTATATAATATATATAATATATAAGATATTATAT AAT	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	6/17			chr11	TogoVar
NPHP4_chr1_5857811_5997425	5882166	ACTTACCC others(74): Show ACTTACCCAGCCATCTCTCAGTGGCGCGCTTACCCAGCCATCTCTCAGTG GCGCGCTTACCCAGCCATCTCTCAGTGGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG04115.hp2 HG00738.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0047 a0001c0001t0001g0048	2	208	0.0096	-81	c.248 others(100): Show c.2486-2008_2486-1928delCGCGCCACTGAGAGATGGCTGGGTAA GCGCGCCACTGAGAGATGGCTGGGTAAGCGCGCCACTGAGAGATGGCTGG GTAAG	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	18/29			chr1	TogoVar
NRG3_chr10_81870194_82992178	82311001	ATTACTGA others(74): Show ATTACTGATGAGGTATTACTCTCTGAGTTGCTCTAAGATTGAGCCAAATG AGAGTGACAGTTCTTTCCGGCTCCTCCCCTGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00639.hp1 others(26): Show HG00438.hp1 HG00438.hp2 HG00639.hp1 HG01071.hp1 HG01081.hp1 HG01175.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1 NA18942.hp2 NA19079.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0005t0003 a0002c0003t0004 a0003c0004t0001 a0004c0006t0008	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0030 others(26): Show a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0005g0003 a0001c0001t0005g0023 a0001c0001t0005g0049 a0001c0001t0005g0060 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0050 a0001c0002t0006g0021 a0001c0002t0006g0042 a0001c0002t0007g0066 a0001c0005t0003g0005 a0002c0003t0004g0001 a0002c0003t0004g0019 a0002c0003t0004g0027 a0002c0003t0004g0043 a0003c0004t0001g0064 a0004c0006t0008g0022	29	66	0.4394	-81	c.824 others(100): Show c.824-47671_824-47591delCGGCTCCTCCCCTGGTTACTGATGAG GTATTACTCTCTGAGTTGCTCTAAGATTGAGCCAAATGAGAGTGACAGTT CTTTC	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRG3_chr10_81870194_82992178	82311068	CGGCTCCT others(74): Show CGGCTCCTCCCCTGGTTACTGATGAGGTATTACTCTCTGAGTTGCTCTAA GATTGAGCCAAATGAGAGTGACAGTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp2 HG02809.hp1 others(5): Show HG01884.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG03017.hp1 HG03195.hp1 HG03486.hp2 HG03516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0003 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0005 a0002c0003t0004 a0003c0004t0001	a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0002t0002g0008 others(5): Show a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0002t0002g0008 a0001c0002t0002g0013 a0001c0002t0002g0032 a0001c0002t0005g0002 a0002c0003t0004g0017 a0003c0004t0001g0063	8	66	0.1212	-81	c.824 others(100): Show c.824-47661_824-47581delCCTGGTTACTGATGAGGTATTACTCT CTGAGTTGCTCTAAGATTGAGCCAAATGAGAGTGACAGTTCTTTCTGGCT CCTCC	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
OPCML_chr11_132409981_133537501	133140952	AGAAGAAG others(74): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGACG ACGACGACGACGACGACGACGACGACGACGAC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0036 a0001c0001t0021g0036	1	68	0.0147	-81	c.62- others(100): Show c.62-198023_62-197943delGTCGTCGTCGTCGTCGTCGTCGTCGT CGTCGTCGTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar

Search by Variant

Search

Search Results