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	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
GABRG3_chr15_26966181_27546984	27305972	TATATAAT others(96): Show TATATAATATAAACCTATATGTTTATATATAAACATATATAATATAAACC TATATGTTTATATATAAACATATATAATATAAACCTATATGTTTATATAT AAAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp1 NA21309.hp1 HG03098.hp2 HG03453.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0011 a0001c0001 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0009t0002 a0001c0011t0018 a0001c0001t0001 a0001c0009t0002 a0001c0011t0018	a0001c0001t0001g0071 a0001c0009t0002g0089 a0001c0011t0018g0004 a0001c0001t0001g0071 a0001c0009t0002g0089 a0001c0011t0018g0004	3	92	0.0326	-103	c.271 others(19): Show c.271-20720_271-20618del		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89292718	ATATATAT others(96): Show ATATATATCGTATATATCATATATAATCGTATATATCGTATATACGATAT ATCGTATATATCGTATATACGATATATCGTATATATCGTATATACGATAT ATCG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0017 a0001c0007t0017	a0001c0007t0017g0309 a0001c0007t0017g0309	1	364	0.0027	-103	c.220 others(17): Show c.220+6938_220+7040del		GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8						chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805899	TCCCTCCC others(96): Show TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAG GCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01884.hp2 NA18940.hp2 others(3): Show HG00673.hp2 HG01884.hp2 NA18940.hp2 NA18969.hp2 NA19068.hp2 NA19089.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0012 a0001c0001t0002g0002 a0001c0001t0002g0070 others(3): Show a0001c0001t0001g0012 a0001c0001t0002g0002 a0001c0001t0002g0070 a0002c0002t0001g0003 a0002c0002t0002g0087 a0003c0003t0001g0215	6	312	0.0192	-103	c.17 others(11): Show c.1734_*1836del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1613		chr2	TogoVar
GAS8_chr16_90017680_90049960	90047878	GCCGCGGT others(96): Show GCCGCGGTGAGGGGGCGGGGCCGCGGTGAGAGGGGGCGGGACCGCGGTGA GAGGGGGCGGGACCGCGGTGAGAGGGGGCGGGACCGCGGTGAGAGGGGGC GGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0031 a0014c0021t0031	a0014c0021t0031g0347 a0014c0021t0031g0347	1	387	0.0026	-103	c.45 others(11): Show c.4534_*4636del		GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding					2919		chr16	TogoVar
GATA5_chr20_62458497_62480995	62476946	TTTTCTTT others(96): Show TTTTCTTTCTTTCTTTCTTTTTTCTTTCTCGGAGCACACCGGGTGGACCC AGGCTTGGCGGCCATGAAAGTTCTTTTTTCTTTCTTCCTTCCTTTCTTTC TTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0260 a0001c0003t0001g0260	1	355	0.0028	-103	c.-11 others(11): Show c.-1141_-1039del		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					952		chr20	TogoVar
GLB1L3_chr11_134271379_134324564	134308241	CCATCACC others(96): Show CCATCACCACCATCACCACCACCACCACCACCACCACCACCAAATACCAC CACCACCACCACCACCACCACTACCACCACCATCACCATCACCATCACCA TCAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01361.hp2 others(3): Show HG01109.hp1 HG01243.hp1 HG01361.hp2 HG02258.hp2 HG03195.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0153 a0001c0001t0001g0191 a0001c0001t0001g0192 others(3): Show a0001c0001t0001g0153 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0002g0363 a0001c0002t0002g0303	6	417	0.0144	-103	c.961 others(17): Show c.961+1036_961+1138del		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308277	CCACCAAA others(96): Show CCACCAAATACCACCACCACCACCACCACCACCACTACCACCACCATCAC CATCACCATCACCATCATCACCATCACCACTACCACCACCACCACCACCA CCAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0117 a0003c0007t0007g0117	1	402	0.0025	-103	c.961 others(17): Show c.961+1075_961+1177del		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GPALPP1_chr13_44984538_45035305	45024207	GTTTTGAG others(96): Show GTTTTGAGACTGAGTCTCAATCTTCAAGTGTTTTTGCTTGGTATCCCCTA AAACTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTT	G G	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	345	0.0029	-103	c.805 others(17): Show c.805-3575_805-3473del		GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
GPIHBP1_chr8_143208218_143222170	143218233	AACACCAC others(96): Show AACACCACCCCCACACCACCCCAACACCACCCCCAACACCACCCCCACAC CACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCAC CCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	92	0.0109	-103	c.27 others(11): Show c.2716_*2818del		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding					1064		chr8	TogoVar
GRIK2_chr6_101388708_102075083	101760366	ATATATTT others(96): Show ATATATTTATTATATATAATTAATTATATTTAATTATATATTTATTATAT ATAATTAATTATATTTAATTATATATTTATTATATATAATTAATTATATT TAAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp2 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0014 a0001c0001t0018 a0001c0002t0014	a0001c0001t0018g0015 a0001c0002t0014g0018 a0001c0001t0018g0015 a0001c0002t0014g0018	2	114	0.0175	-103	c.952 others(19): Show c.952-39276_952-39174del		GRIK2	ENSG00000164418.22	transcript	ENST00000369134.9	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
GRIK2_chr6_101388708_102075083	101761835	TTTCCTTT others(96): Show TTTCCTTTCCTTCCTTCCCTTCCTTTCCTTTCCCCTCCCTTCCTTTCCTT CCTTCCTCCCTTCTTTTCTTTTCTTCCTTTCTTTCCTTTGTTTGTTTCTT TTCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02602.hp2 HG02886.hp2 others(5): Show HG02559.hp1 HG02602.hp2 HG02886.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp2 HG04204.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0002g0036 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0079 a0001c0001t0004g0080 a0001c0001t0015g0052 a0001c0002t0001g0003	8	108	0.0741	-103	c.952 others(19): Show c.952-37647_952-37545del		GRIK2	ENSG00000164418.22	transcript	ENST00000369134.9	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
GSTM4_chr1_109651099_109666700	109654087	AGAAAGAA others(96): Show AGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(87): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp2 HG00621.hp1 HG00741.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01517.hp2 HG01952.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19004.hp2 NA19007.hp2 NA19057.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0003c0008 a0004c0007	a0001c0001t0001 a0001c0001t0017 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0009t0001 a0002c0003t0009 a0003c0008t0001 a0004c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0017g0020 a0001c0002t0001g0004 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0003g0008 a0001c0002t0003g0028 a0001c0002t0003g0059 a0001c0002t0005g0017 a0001c0002t0005g0070 a0001c0002t0006g0097 a0001c0009t0001g0014 a0002c0003t0009g0034 a0003c0008t0001g0022 a0004c0007t0001g0080	90	355	0.2535	-103	c.-23 others(11): Show c.-2302_-2200del		GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding					2011		chr1	TogoVar
GUCD1_chr22_24535438_24560138	24559969	GTCTTCAC others(96): Show GTCTTCACTTGGTCTTCCCTCTGTAGTGTTTCTGTCCAGATTCTTCTTAT AAGGATACCATGCATGTAGGATTAGGGCCCACTCTAATGACTTCATCTTA ACAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0098 a0001c0001t0008g0098	1	411	0.0024	-103	c.-50 others(11): Show c.-5081_-4979del		GUCD1	ENSG00000138867.17	transcript	ENST00000435822.6	protein_coding					4832		chr22	TogoVar
HBM_chr16_160978_171764	164815	GGCGGGGC others(96): Show GGCGGGGCGGGCGGGGCGGCCGGGGCCCGGCGGGGCGGGGCGGGGCGGGG AGGGGCTGGGCGGGGCGGGGCGCGGGGCGGGGCGGGCCGGGCCGGGGCGG GGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	-103	c.-11 others(11): Show c.-1182_-1080del		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					1162		chr16	TogoVar
HCN2_chr19_584881_622159	605333	GGGGACCC others(96): Show GGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTACAGAG GTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTTCAG AGGC	G G	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	373	0.0027	-103	c.121 others(17): Show c.1218+115_1218+217del		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC4_chr2_239043168_239406020	239176168	ACTCCCTC others(96): Show ACTCCCTCCCTCTGCCCGGCCTCCCTCCCTCTGCCCGGCCTTCTGCGCCC GCACTCCCTCCCTCTGCCCAGCCTTCCGTGCCCGCACCCCTCCCTCTGCC CGGC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG02015.hp1 others(4): Show HG00438.hp1 HG00673.hp2 HG02015.hp1 HG02738.hp1 NA18946.hp2 NA18983.hp2 NA19090.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0032 others(1): Show a0001c0001 a0001c0002 a0001c0032 a0009c0021	a0001c0001t0001 a0001c0001t0006 a0001c0001t0060 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0060 a0001c0002t0001 a0001c0032t0001 a0009c0021t0001	a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0006g0188 others(4): Show a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0006g0188 a0001c0001t0060g0084 a0001c0002t0001g0115 a0001c0032t0001g0050 a0009c0021t0001g0117	7	240	0.0292	-103	c.490 others(15): Show c.490+142_490+244del		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	5/26						chr2	TogoVar
HINT3_chr6_125951770_125985244	125962209	TACACATA others(96): Show TACACATATATATATATATATATATACACATATATATATATACACACATA TATATATATATACATACATATATATATACACATATATATATATATATATC ACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp2 HG02280.hp2 others(10): Show HG00741.hp1 HG01891.hp2 HG02280.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp2 HG03209.hp1 HG03579.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0017	a0001c0001t0001g0012 a0001c0001t0001g0085 a0001c0001t0003g0015 others(9): Show a0001c0001t0001g0012 a0001c0001t0001g0085 a0001c0001t0003g0015 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0004g0167 a0001c0001t0004g0173 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0082 a0002c0002t0017g0029	13	231	0.0563	-103	c.202 others(17): Show c.202-4676_202-4574del		HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
HSD17B11_chr4_87331515_87396188	87378855	TAAATATA others(96): Show TAAATATATATAAATATATATATATAAATATATATATATAAATATATATA AATATATATATATAAATATATATAAATATATATATATATATATTTATATA TATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp2 HG01891.hp1 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0250 a0001c0002t0004g0364 a0001c0002t0001g0250 a0001c0002t0004g0364	2	251	0.0080	-103	c.318 others(17): Show c.318+3297_318+3399del		HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6						chr4	TogoVar
HSD17B6_chr12_56758324_56792790	56789467	TCCTCCCT others(96): Show TCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGACGGCTGGCCGGGCGGGGGGCTGACCCCC CTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02896.hp1 HG00099.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0001 a0001c0001t0001g0065	2	357	0.0056	-103	c.21 others(11): Show c.2126_*2228del		HSD17B6	ENSG00000025423.11	transcript	ENST00000322165.1	protein_coding					1678		chr12	TogoVar
HSD17B6_chr12_56758324_56792790	56789485	GCGGCTGG others(96): Show GCGGCTGGCCGGGCGGGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGACGGCTGGCCGGGCGGGGGGCTGACCCCCCTCACCTCCCTCCCGGAG GGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02965.hp1 NA21309.hp2 HG02647.hp2 HG02965.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0126 a0001c0001t0001g0235 a0001c0001t0001g0044 a0001c0001t0001g0126 a0001c0001t0001g0235	3	358	0.0084	-103	c.21 others(11): Show c.2144_*2246del		HSD17B6	ENSG00000025423.11	transcript	ENST00000322165.1	protein_coding					1696		chr12	TogoVar
HSPB9_chr17_42117804_42128352	42122905	CCCAGCGT others(96): Show CCCAGCGTGGGCCTTGCTGAACGGAACCGGGTGGCCACAATGCCGGTGCG GCTGCTCAGGGACAGTCCAGCGGCTCAGGAGGACAATGACCATGCCAGAG ACGG	C C	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG00741.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0000 a0006c0007t0001g0000	1	332	0.0030	-103	c.56_ others(6): Show c.56_158del	p.Pro others(4): Show p.Pro19fs	HSPB9	ENSG00000260325.2	transcript	ENST00000565659.2	protein_coding	1/1	103/549	56/480	19/159			chr17	TogoVar
IFITM10_chr11_1727406_1755595	1745868	CGTGTGAT others(96): Show CGTGTGATTACACACACGTGCACACTCAGGTACATACAGACAGTACACAG GCACACCCCACACACACTTGTGCACACACATTTATACGTGCCATGCACAC TCAT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0021 a0006c0007t0021	a0006c0007t0021g0135 a0006c0007t0021g0135	1	403	0.0025	-103	c.537 others(17): Show c.537+1696_537+1798del		IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding	2/2						chr11	TogoVar
IL19_chr1_206765773_206847981	206781918	TAGTTATA others(96): Show TAGTTATATATACATATATATGTATATAGTTATATATACATATATATGTA TATGTTATATATACATATATATGTATATGTTATATATACATATATATGTA TATA	T T	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0081 a0001c0001t0013g0081	1	355	0.0028	-103	c.-14 others(21): Show c.-149+10841_-149+10943del		IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6						chr1	TogoVar
INAVA_chr1_200889900_200920742	200911042	GTTAATGT others(96): Show GTTAATGTAGTACTTTAAAAAAAGTAGTTAATGTAGTACTTTAAAAAAAG TACTTAATGTAGTACTTTAAAAAAGTACTTAATGTAGTACTTTAAAAAAA GTAC	G G	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	421	0.0024	-103	c.960 others(15): Show c.960-385_960-283del		INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
JAG2_chr14_105135995_105173776	105149898	GGGGGTGG others(96): Show GGGGGTGGTAGGGAGGTGGGTGGGGGGAGGCAGGGTTGGGGGAGGTGGGG AAGGGGGTGGTAGGGAGGTGGGTGGGGGGAGGCAGGGTTGGGGGAGGTAG GGGA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	362	0.0028	-103	c.160 others(17): Show c.1602+603_1603-579del		JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	12/25						chr14	TogoVar
JAKMIP3_chr10_132060946_132189858	132159590	GGGGGCAT others(96): Show GGGGGCATGTCTTCCTATGTGATGCTGGGGGTCCTCTTCCTTTGTGATGC TGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGTCCTCTCCCTATGTGATG CTCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0042 a0002c0004t0004g0042	1	156	0.0064	-103	c.222 others(19): Show c.2221-3614_2221-3512del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
KAT2A_chr17_42108111_42126367	42122905	CCCAGCGT others(96): Show CCCAGCGTGGGCCTTGCTGAACGGAACCGGGTGGCCACAATGCCGGTGCG GCTGCTCAGGGACAGTCCAGCGGCTCAGGAGGACAATGACCATGCCAGAG ACGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	352	0.0028	-103	c.-17 others(11): Show c.-1704_-1602del		KAT2A	ENSG00000108773.11	transcript	ENST00000225916.10	protein_coding					1539		chr17	TogoVar
KCNQ2_chr20_63395208_63477655	63455999	TCACGGGC others(96): Show TCACGGGCCCCCCACCTCCGGGAGGCCCCTCTGCTCACGGGCCCCCCACC TCCGGGAGGCCCCTCTGCTTCACGGGCCCCCCACCTCCGGGAGGCCCCTC TGCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02129.hp1 HG02647.hp1 others(17): Show HG01891.hp2 HG02129.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02922.hp1 HG03017.hp1 HG03130.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0001c0014 others(3): Show a0001c0002 a0001c0007 a0001c0014 a0001c0017 a0001c0021 a0002c0001	a0001c0002t0001 a0001c0002t0034 a0001c0007t0005 others(6): Show a0001c0002t0001 a0001c0002t0034 a0001c0007t0005 a0001c0014t0005 a0001c0014t0014 a0001c0017t0029 a0001c0021t0049 a0002c0001t0046 a0002c0001t0067	a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0034g0001 others(16): Show a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0034g0001 a0001c0007t0005g0222 a0001c0007t0005g0224 a0001c0007t0005g0225 a0001c0007t0005g0226 a0001c0007t0005g0230 a0001c0007t0005g0231 a0001c0007t0005g0232 a0001c0007t0005g0233 a0001c0007t0005g0242 a0001c0014t0005g0227 a0001c0014t0005g0229 a0001c0014t0014g0228 a0001c0017t0029g0160 a0001c0021t0049g0025 a0002c0001t0046g0221 a0002c0001t0067g0218	20	328	0.0610	-103	c.297 others(17): Show c.297-9265_297-9163del		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16						chr20	TogoVar
KMT2E_chr7_105009205_105120019	105023445	AATTTTTT others(96): Show AATTTTTTTTTTTTTTTTGAGATGGAGTGTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGTGTGATCTCCACCCACTGCAAGCTCCGCCTTCCGGGTTCA TGCC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	302	0.0033	-103	c.-18 others(19): Show c.-189+8914_-189+9016del		KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
KSR2_chr12_117448012_117973990	117793244	CTGCACAC others(96): Show CTGCACACACCCTCACACCAACATGCACACACGCCAACATGCAACATACC ATACACACAACATGCACACACCCTCACACCAACATGCACACATACACACC AGCA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0150 a0001c0001t0023g0150	1	194	0.0052	-103	c.473 others(19): Show c.473-31823_473-31721del		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19						chr12	TogoVar
LDLRAD4_chr18_13213760_13657751	13288674	ACAGACCG others(96): Show ACAGACCGTGGTCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGCAGCC CCACAGACCGTGGTCACTCTGCAAGGTGAGTCACGGGCCACGGTAGCAGC CCTG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	161	0.0062	-103	c.-38 others(21): Show c.-383+10545_-383+10647del		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LMLN_chr3_197955217_198048720	198003614	ATAGTAAG others(96): Show ATAGTAAGTTTGACATTATCTATATATCATCTATACAGATACATATCATA CGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCA TACG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01261.hp1 HG01123.hp1 HG01261.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0025 a0003c0003t0026 a0003c0003t0025 a0003c0003t0026	a0003c0003t0025g0082 a0003c0003t0026g0081 a0003c0003t0025g0082 a0003c0003t0026g0081	2	187	0.0107	-103	c.131 others(17): Show c.1319+505_1319+607del		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
LSM14B_chr20_62117475_62140374	62139223	GCCATCCA others(96): Show GCCATCCAATTAAGAAACTGCATGTGAGGAAAGAACCGTACTTAGTGAAG ATACGAACATTTTAAACCATGCCTGAGCCCCTTCTCAGGTTATCAGCAGT TCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	-103	c.50 others(11): Show c.5076_*5178del		LSM14B	ENSG00000149657.20	transcript	ENST00000279068.11	protein_coding					3850		chr20	TogoVar
LYNX1_chr8_142766202_142782202	142777432	CCCGCCTC others(96): Show CCCGCCTCCTGGGCACCCGCCGAGCCGAGTTCACCGCAGGCCCCGCCCCG GACCCGCCTCCTGGGCACCCGCCGAGCCGAGTTCACCGCAGGCCCCGCCC CGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0018 a0001c0001t0015g0018	1	442	0.0023	-103	c.-59 others(9): Show c.-594_-492del		LYNX1	ENSG00000180155.20	transcript	ENST00000652477.1	protein_coding					231		chr8	TogoVar
MAFA_chr8_143423064_143435732	143431408	CGGCTTGT others(96): Show CGGCTTGTGGGGGGCCGCGGAGAGCGCAGGACTGTGGGGGTCGCGGGACA ACGCGGGTGGGTGCGAGCGGCGGGGGCGGGGCCCACGGGCTGGCAGCCCC TCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00639.hp1 others(68): Show HG00280.hp1 HG00408.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01167.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02109.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02572.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03490.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18947.hp2 NA18961.hp1 NA18962.hp1 NA18970.hp2 NA18971.hp1 NA18978.hp2 NA18986.hp2 NA18995.hp1 NA19009.hp1 NA19011.hp2 NA19066.hp1 NA19080.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0010 others(1): Show a0001c0001 a0001c0008 a0001c0010 a0002c0006	a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 others(6): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0008t0005 a0001c0010t0009 a0002c0006t0006	a0001c0001t0005g0000 a0001c0001t0007g0000 a0001c0001t0009g0000 others(6): Show a0001c0001t0005g0000 a0001c0001t0007g0000 a0001c0001t0009g0000 a0001c0001t0036g0000 a0001c0001t0037g0000 a0001c0001t0039g0000 a0001c0008t0005g0000 a0001c0010t0009g0000 a0002c0006t0006g0000	71	444	0.1599	-103	c.-11 others(11): Show c.-1105_-1003del		MAFA	ENSG00000182759.4	transcript	ENST00000333480.3	protein_coding					677		chr8	TogoVar
MAP3K15_chrX_19355059_19520508	19452256	AAGAGAAG others(96): Show AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGA GAAG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0128 a0013c0012t0001g0128	1	157	0.0064	-103	c.995 others(17): Show c.995+4554_995+4656del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
MAPT_chr17_45889554_46033334	45969502	ACATCCAA others(96): Show ACATCCAATCATATATCTGTACATAATCCATTCTTCCCTCGGTTCATCCA TCCATCCATTCATCCATCCATCCACCCATCCCTTCCTTCATCCTTCCTAT CATC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp1 others(19): Show HG00140.hp1 HG00280.hp1 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01255.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp2 HG01993.hp2 HG02109.hp1 HG02257.hp1 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03704.hp1 HG04199.hp2 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0004 a0003c0004t0011 others(2): Show a0001c0001t0003 a0003c0004t0004 a0003c0004t0011 a0003c0004t0015 a0003c0004t0016	a0001c0001t0003g0082 a0003c0004t0004g0001 a0003c0004t0004g0002 others(19): Show a0001c0001t0003g0082 a0003c0004t0004g0001 a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0005 a0003c0004t0004g0007 a0003c0004t0004g0008 a0003c0004t0004g0009 a0003c0004t0004g0010 a0003c0004t0004g0011 a0003c0004t0004g0014 a0003c0004t0004g0015 a0003c0004t0004g0016 a0003c0004t0004g0017 a0003c0004t0004g0018 a0003c0004t0004g0019 a0003c0004t0004g0020 a0003c0004t0004g0021 a0003c0004t0011g0006 a0003c0004t0011g0013 a0003c0004t0015g0012 a0003c0004t0016g0004	22	252	0.0873	-103	c.134 others(17): Show c.134-2241_134-2139del		MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090382	CACCCCCC others(96): Show CACCCCCCCACACACACACCCCCCGCCCCACACACACACCCCCCGCCCCA CACACACACACCCCCCGCCCCACACACACACCCCCCGCCCCACACACACA CACA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0186 a0001c0002t0010g0186	1	391	0.0026	-103	c.557 others(17): Show c.557-2784_557-2682del		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3						chr17	TogoVar
METRNL_chr17_83074609_83100122	83090391	ACACACAC others(96): Show ACACACACACCCCCCGCCCCACACACACACCCCCCGCCCCACACACACAC ACCCCCCGCCCCACACACACACCCCCCGCCCCACACACACACACACCCCC GCCC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18951.hp1 NA19090.hp2 HG03471.hp1 NA18951.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0002t0002g0291 a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0002t0002g0291	3	386	0.0078	-103	c.557 others(17): Show c.557-2766_557-2664del		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
MLPH_chr2_237482251_237560322	237542719	CGGACAGT others(96): Show CGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGA GTGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00621.hp2 others(9): Show HG00280.hp2 HG00323.hp1 HG00621.hp2 HG00738.hp1 HG01433.hp2 HG02083.hp1 HG02451.hp2 HG02735.hp2 NA18941.hp1 NA18980.hp1 NA19067.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0004 a0002c0002 a0005c0004	a0002c0002t0001 a0002c0002t0011 a0005c0004t0001 others(2): Show a0002c0002t0001 a0002c0002t0011 a0005c0004t0001 a0005c0004t0002 a0005c0004t0004	a0002c0002t0001g0085 a0002c0002t0011g0084 a0005c0004t0001g0011 others(9): Show a0002c0002t0001g0085 a0002c0002t0011g0084 a0005c0004t0001g0011 a0005c0004t0001g0013 a0005c0004t0001g0015 a0005c0004t0001g0016 a0005c0004t0001g0018 a0005c0004t0001g0019 a0005c0004t0001g0021 a0005c0004t0001g0278 a0005c0004t0002g0012 a0005c0004t0004g0020	12	281	0.0427	-103	c.153 others(16): Show c.1539+94_1539+196del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543195	TGGGGGCA others(96): Show TGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACAGTAGTG AGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAATGGGGGACAGTGG TGAG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0092 a0008c0011t0001g0092	1	276	0.0036	-103	c.153 others(17): Show c.1539+537_1539+639del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MLPH_chr2_237482251_237560322	237543201	CACAGTGG others(96): Show CACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTAGG GGGACAGTGGTGAATGGGGGACAGTGGTGAATGGGGGACAGTGGTGAGTG GGGG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18969.hp1 NA18975.hp1 HG00544.hp2 NA18969.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0242 a0001c0001t0001g0281 a0001c0001t0001g0024 a0001c0001t0001g0242 a0001c0001t0001g0281	3	227	0.0132	-103	c.153 others(17): Show c.1539+555_1539+657del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544028	AGGACAGT others(96): Show AGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTG GAGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0162 a0001c0015t0001g0162	1	181	0.0055	-103	c.153 others(19): Show c.1539+1421_1539+1523del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545044	GGGACAGT others(96): Show GGGACAGTGGGTGGAGGGGGCACTATTGGTAGGGGGGACAATTATTGGGG GGGGGCACTAATTGTGAGGGGGGACCAGTGTTGAGTGGGGGAATAGTTAT GAGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG02055.hp1 others(9): Show HG00140.hp1 HG00544.hp1 HG02055.hp1 HG02129.hp2 HG02145.hp1 HG02300.hp1 HG02896.hp1 HG02897.hp2 NA18951.hp1 NA19043.hp2 NA19082.hp1 NA20300.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0014 a0019	a0002c0002 a0002c0008 a0002c0049 others(4): Show a0002c0002 a0002c0008 a0002c0049 a0003c0003 a0004c0005 a0014c0020 a0019c0025	a0002c0002t0003 a0002c0008t0001 a0002c0049t0002 others(7): Show a0002c0002t0003 a0002c0008t0001 a0002c0049t0002 a0003c0003t0001 a0003c0003t0005 a0004c0005t0001 a0004c0005t0004 a0014c0020t0002 a0014c0020t0009 a0019c0025t0002	a0002c0002t0003g0068 a0002c0008t0001g0093 a0002c0049t0002g0063 others(9): Show a0002c0002t0003g0068 a0002c0008t0001g0093 a0002c0049t0002g0063 a0003c0003t0001g0261 a0003c0003t0001g0264 a0003c0003t0005g0262 a0003c0003t0005g0263 a0004c0005t0001g0191 a0004c0005t0004g0219 a0014c0020t0002g0172 a0014c0020t0009g0173 a0019c0025t0002g0049	12	281	0.0427	-103	c.154 others(19): Show c.1540-1559_1540-1457del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43499248	GTGGTGAT others(96): Show GTGGTGATGGAGGTGGTGGTGATGGTGATGGGGGTGGTGATGGATGTGAT GGTGGTGGTGATAGAAGTGGTGACGTGGGAGGTGGTGGTGGTGGGAGGTA GTGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01069.hp2 HG01074.hp1 others(8): Show HG00673.hp1 HG01069.hp2 HG01074.hp1 HG01515.hp1 HG01517.hp2 HG01981.hp1 HG02602.hp1 HG02647.hp2 HG03017.hp2 NA19005.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0028	a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0001t0001g0144 others(8): Show a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0002t0001g0091 a0001c0002t0001g0150 a0001c0002t0002g0109 a0001c0002t0003g0183 a0001c0002t0012g0047 a0001c0002t0028g0089	11	248	0.0444	-103	c.748 others(16): Show c.748+970_748+1072del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MTNR1A_chr4_186528655_186560567	186546792	GGGACACA others(96): Show GGGACACACCGTCCACACCACACCCTGTTCGTGGGACACACCGTCCACAC CACACCCTGTTCGTGGGACACACCGTCCACACCACACCCTGTTCGTGGGA CACA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18522.hp2 HG00733.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0065 a0001c0003t0001g0066	2	390	0.0051	-103	c.184 others(17): Show c.184+8287_184+8389del		MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1						chr4	TogoVar
MYOM2_chr8_2040046_2150456	2081074	TCTGCGGG others(96): Show TCTGCGGGAGGAACAGGCAGCCCAGCCCGTGTAGAATGAGGTTGGTTCTG GCCTGCGGGAGGAACAGGCAGCCCAGCCCGTGTAGAATGAGGTTTGGTTC TGGC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0202 a0001c0002t0002g0203	2	401	0.0050	-103	c.151 others(19): Show c.1516+1503_1516+1605del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	13/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2081116	TGGTTCTG others(96): Show TGGTTCTGGCCTGCGGGAGGAACAGGCAGCCCAGCCCGTGTAGAATGAGG TTTGGTTCTGGCCTGCGGGAGGAACAGGCAGCCCAGCCCGTGTAGAATGA GGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(115): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02818.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18945.hp2 NA18951.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18986.hp2 NA18989.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(37): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0011 a0013 a0015 a0018 a0020 a0021 a0022 a0024 a0033 a0038 a0041 a0042 a0043 a0058 a0059 a0063 a0064 a0065 a0068 a0071 a0072 a0073 a0076 a0079 a0081 a0084 a0086 a0087 a0088 a0089 a0090 a0091	a0001c0002 a0001c0003 a0002c0006 others(57): Show a0001c0002 a0001c0003 a0002c0006 a0002c0017 a0003c0001 a0003c0004 a0003c0069 a0003c0152 a0003c0156 a0003c0157 a0003c0164 a0004c0007 a0004c0051 a0004c0153 a0004c0158 a0004c0159 a0006c0191 a0006c0204 a0007c0067 a0008c0008 a0009c0012 a0009c0160 a0009c0162 a0009c0165 a0011c0011 a0011c0151 a0013c0181 a0015c0026 a0015c0173 a0018c0018 a0020c0058 a0020c0211 a0021c0066 a0022c0027 a0024c0071 a0024c0072 a0033c0183 a0038c0050 a0041c0212 a0042c0166 a0043c0154 a0058c0161 a0059c0148 a0063c0150 a0064c0083 a0065c0062 a0068c0187 a0071c0193 a0072c0155 a0073c0168 a0076c0190 a0079c0186 a0081c0172 a0084c0171 a0086c0082 a0087c0213 a0088c0192 a0089c0210 a0090c0163 a0091c0167	a0001c0002t0001 a0001c0003t0001 a0002c0006t0001 others(64): Show a0001c0002t0001 a0001c0003t0001 a0002c0006t0001 a0002c0017t0001 a0003c0001t0001 a0003c0001t0002 a0003c0001t0003 a0003c0004t0001 a0003c0004t0002 a0003c0069t0001 a0003c0152t0001 a0003c0156t0002 a0003c0157t0001 a0003c0164t0001 a0004c0007t0001 a0004c0007t0002 a0004c0051t0001 a0004c0051t0002 a0004c0153t0001 a0004c0158t0002 a0004c0159t0001 a0006c0191t0001 a0006c0204t0002 a0007c0067t0001 a0008c0008t0001 a0009c0012t0001 a0009c0012t0002 a0009c0160t0001 a0009c0162t0002 a0009c0165t0003 a0011c0011t0001 a0011c0151t0001 a0013c0181t0001 a0015c0026t0001 a0015c0173t0002 a0018c0018t0003 a0020c0058t0001 a0020c0058t0002 a0020c0211t0002 a0021c0066t0005 a0022c0027t0001 a0024c0071t0001 a0024c0072t0002 a0033c0183t0001 a0038c0050t0001 a0041c0212t0001 a0042c0166t0001 a0043c0154t0001 a0058c0161t0001 a0059c0148t0002 a0063c0150t0001 a0064c0083t0004 a0065c0062t0002 a0068c0187t0001 a0071c0193t0001 a0072c0155t0001 a0073c0168t0002 a0076c0190t0001 a0079c0186t0001 a0081c0172t0001 a0084c0171t0002 a0086c0082t0001 a0087c0213t0005 a0088c0192t0002 a0089c0210t0001 a0090c0163t0001 a0091c0167t0001	a0001c0002t0001g0284 a0001c0003t0001g0046 a0002c0006t0001g0120 others(114): Show a0001c0002t0001g0284 a0001c0003t0001g0046 a0002c0006t0001g0120 a0002c0017t0001g0208 a0003c0001t0001g0109 a0003c0001t0001g0114 a0003c0001t0001g0131 a0003c0001t0001g0227 a0003c0001t0001g0239 a0003c0001t0001g0240 a0003c0001t0001g0263 a0003c0001t0001g0268 a0003c0001t0001g0269 a0003c0001t0001g0307 a0003c0001t0001g0332 a0003c0001t0001g0334 a0003c0001t0001g0338 a0003c0001t0001g0351 a0003c0001t0001g0379 a0003c0001t0002g0267 a0003c0001t0002g0308 a0003c0001t0002g0377 a0003c0001t0003g0275 a0003c0001t0003g0340 a0003c0004t0001g0129 a0003c0004t0001g0130 a0003c0004t0001g0319 a0003c0004t0001g0324 a0003c0004t0001g0326 a0003c0004t0001g0327 a0003c0004t0001g0328 a0003c0004t0002g0040 a0003c0004t0002g0110 a0003c0004t0002g0147 a0003c0004t0002g0219 a0003c0004t0002g0237 a0003c0004t0002g0272 a0003c0004t0002g0293 a0003c0069t0001g0243 a0003c0152t0001g0370 a0003c0156t0002g0279 a0003c0157t0001g0221 a0003c0164t0001g0101 a0004c0007t0001g0043 a0004c0007t0001g0099 a0004c0007t0001g0238 a0004c0007t0001g0264 a0004c0007t0001g0265 a0004c0007t0001g0286 a0004c0007t0001g0291 a0004c0007t0001g0292 a0004c0007t0001g0336 a0004c0007t0002g0266 a0004c0051t0001g0360 a0004c0051t0002g0287 a0004c0153t0001g0126 a0004c0158t0002g0380 a0004c0159t0001g0041 a0006c0191t0001g0169 a0006c0204t0002g0160 a0007c0067t0001g0244 a0008c0008t0001g0104 a0008c0008t0001g0107 a0008c0008t0001g0111 a0008c0008t0001g0247 a0008c0008t0001g0271 a0009c0012t0001g0049 a0009c0012t0002g0113 a0009c0012t0002g0306 a0009c0160t0001g0352 a0009c0162t0002g0273 a0009c0165t0003g0207 a0011c0011t0001g0003 a0011c0011t0001g0042 a0011c0011t0001g0226 a0011c0151t0001g0295 a0013c0181t0001g0388 a0015c0026t0001g0220 a0015c0026t0001g0261 a0015c0026t0001g0375 a0015c0173t0002g0024 a0018c0018t0003g0229 a0018c0018t0003g0259 a0020c0058t0001g0157 a0020c0058t0002g0185 a0020c0211t0002g0087 a0021c0066t0005g0276 a0022c0027t0001g0088 a0022c0027t0001g0090 a0022c0027t0001g0091 a0024c0071t0001g0121 a0024c0072t0002g0028 a0033c0183t0001g0119 a0038c0050t0001g0103 a0038c0050t0001g0347 a0041c0212t0001g0008 a0042c0166t0001g0224 a0043c0154t0001g0106 a0058c0161t0001g0134 a0059c0148t0002g0036 a0063c0150t0001g0035 a0064c0083t0004g0132 a0065c0062t0002g0175 a0068c0187t0001g0022 a0071c0193t0001g0182 a0072c0155t0001g0270 a0073c0168t0002g0320 a0076c0190t0001g0209 a0079c0186t0001g0057 a0081c0172t0001g0033 a0084c0171t0002g0260 a0086c0082t0001g0262 a0087c0213t0005g0145 a0088c0192t0002g0148 a0089c0210t0001g0153 a0090c0163t0001g0390 a0091c0167t0001g0399	118	402	0.2935	-103	c.151 others(19): Show c.1516+1595_1516+1697del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	13/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64174484	CAGCATCT others(96): Show CAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTC CTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTC CTGT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	187	0.0053	-103	c.-99 others(17): Show c.-99+9757_-99+9859del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175110	TCCCCTCC others(96): Show TCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATT CCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCC ATTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03834.hp1 HG01081.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0137 a0001c0002t0006g0165 a0001c0001t0001g0137 a0001c0002t0006g0165	2	222	0.0090	-103	c.-99 others(19): Show c.-99+10392_-99+10494del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar

Search by Variant

Search

Search Results