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
ARID5B_chr10_61896699_62101944	61940951	ATATATAT others(26): Show ATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	230	0.0043	-33	c.502 others(48): Show c.502+545_502+577delATATATATATATATTTTTTTTTTTTTTTTT TTT		ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
ARL4C_chr2_234488041_234502081	234488061	GAGGACAT others(26): Show GAGGACATGTGGAGGAGGCTGAGGACATGTGTAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	466	0.0021	-33	c.77 others(44): Show c.7712_*7744delGTACACATGTCCTCAGCCTCCTCCACATGTCCT		ARL4C	ENSG00000188042.8	transcript	ENST00000339728.6	protein_coding					4979		chr2	TogoVar
ARMH3_chr10_101840599_102061173	101946039	TCCAGCCT others(26): Show TCCAGCCTGGGCGACAGAGTAAGACTCTGCCTCA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	260	0.0038	-33	c.170 others(52): Show c.1706-6134_1706-6102delTGAGGCAGAGTCTTACTCTGTCGCCC AGGCTGG		ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	22/25						chr10	TogoVar
ARMT1_chr6_151447466_151475101	151450422	CGGCCAGC others(26): Show CGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG02717.hp1 others(5): Show HG02109.hp2 HG02647.hp1 HG02717.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp2 HG03579.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0027 a0004c0005t0001g0024 a0004c0005t0001g0049 others(2): Show a0001c0001t0001g0027 a0004c0005t0001g0024 a0004c0005t0001g0049 a0004c0005t0001g0052 a0004c0005t0001g0053	8	416	0.0192	-33	c.-21 others(44): Show c.-2123_-2091delGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGG		ARMT1	ENSG00000146476.11	transcript	ENST00000367294.4	protein_coding					2043		chr6	TogoVar
ARRDC3_chr5_91363631_91388317	91387610	TGTGGTGG others(26): Show TGTGGTGGCATGTGCCTCTAGTCCCAGCTATTCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-33	c.-45 others(44): Show c.-4551_-4519delTGAATAGCTGGGACTAGAGGCACATGCCACCAC		ARRDC3	ENSG00000113369.9	transcript	ENST00000265138.4	protein_coding					4294		chr5	TogoVar
ARSH_chrX_3001546_3039111	3036540	TGCTCCTG others(26): Show TGCTCCTGGGAGGGGAAAGATTTATTGACTTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	246	0.0041	-33	c.31 others(44): Show c.3156_*3188delGCTCCTGGGAGGGGAAAGATTTATTGACTTGCC		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding					2430		chrX	TogoVar
ASCC3_chr6_100503194_100886329	100608225	TTATATAC others(26): Show TTATATACTTTATACTTTATATATATACTTTATA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0187 a0003c0004t0004g0187	1	306	0.0033	-33	c.478 others(52): Show c.4786-1170_4786-1138delTATAAAGTATATATATAAAGTATAAA GTATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCL1_chr12_102952674_102965513	102958340	TGCCACGG others(26): Show TGCCACGGCCGCAGCCGCGGCGGCCGCAGCCGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0001 a0012c0015t0001g0001	1	352	0.0028	-33	c.99_ others(39): Show c.99_131delCACGGCCGCAGCCGCGGCGGCCGCAGCCGCCGC	p.Thr others(11): Show p.Thr34_Ala44del	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	670/2481	99/711	33/236		INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIC5_chr4_155824729_155871277	155853595	TATACTAG others(26): Show TATACTAGTTATTATATATAATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01256.hp1 HG01258.hp1 others(22): Show HG01123.hp2 HG01256.hp1 HG01258.hp1 HG02083.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp2 HG03942.hp2 NA18906.hp2 NA18985.hp2 NA18991.hp2 NA19030.hp1 NA19240.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0005c0006t0003	a0001c0001t0001g0021 a0001c0001t0001g0149 a0001c0002t0001g0056 others(14): Show a0001c0001t0001g0021 a0001c0001t0001g0149 a0001c0002t0001g0056 a0001c0003t0001g0030 a0001c0003t0001g0070 a0001c0003t0003g0011 a0001c0003t0003g0031 a0001c0003t0003g0032 a0001c0003t0003g0064 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0071 a0001c0003t0003g0072 a0001c0003t0003g0073 a0005c0006t0003g0063	25	332	0.0753	-33	c.585 others(48): Show c.585+449_585+481delTATATATTATATATTATATATAATAACTAG TAT		ASIC5	ENSG00000256394.3	transcript	ENST00000537611.3	protein_coding	3/9						chr4	TogoVar
ASTN2_chr9_116418112_117420057	116803494	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG03209.hp1 HG02109.hp1 HG02559.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0003t0012 a0001c0001t0002 a0001c0003t0001 a0001c0003t0012	a0001c0001t0002g0070 a0001c0003t0001g0038 a0001c0003t0012g0001 a0001c0001t0002g0070 a0001c0003t0001g0038 a0001c0003t0012g0001	3	100	0.0300	-33	c.239 others(52): Show c.2396+2105_2396+2137delAAAAATATATATATATATATATATAT ATATATA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803496	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02451.hp1 HG02559.hp1 others(6): Show HG01261.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02896.hp1 HG03139.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0003t0007 a0001c0005t0005 a0001c0013t0009	a0001c0001t0001g0028 a0001c0001t0006g0079 a0001c0001t0007g0078 others(6): Show a0001c0001t0001g0028 a0001c0001t0006g0079 a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0002t0001g0033 a0001c0003t0007g0071 a0001c0003t0007g0074 a0001c0005t0005g0076 a0001c0013t0009g0072	9	77	0.1169	-33	c.239 others(52): Show c.2396+2103_2396+2135delAAAAAAATATATATATATATATATAT ATATATA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060325	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	74	0.0135	-33	c.127 others(54): Show c.1277-20393_1277-20361delCTTTCTTTCTTTCTCTCTTTCTTT CTTTCTTTC		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22						chr9	TogoVar
ASXL3_chr18_33573219_33756195	33602803	GATCAAAT others(26): Show GATCAAATAAAATAACATATGTTGTGTGAAGCAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00558.hp2 others(33): Show HG00280.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00735.hp2 HG01109.hp1 HG01192.hp1 HG01255.hp2 HG01891.hp2 HG01975.hp2 HG02055.hp2 HG02109.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02622.hp2 HG02886.hp1 HG02976.hp1 HG03225.hp1 HG03704.hp2 HG04184.hp1 NA18959.hp1 NA18970.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0001c0005 a0002c0002 others(5): Show a0001c0001 a0001c0005 a0002c0002 a0002c0013 a0004c0004 a0005c0007 a0006c0010 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0029 a0001c0005t0002 a0001c0005t0020 a0002c0002t0003 a0002c0002t0004 a0002c0002t0046 a0002c0013t0027 a0004c0004t0004 a0004c0004t0026 a0005c0007t0001 a0006c0010t0015 a0007c0009t0002	a0001c0001t0001g0040 a0001c0001t0001g0156 a0001c0001t0001g0160 others(33): Show a0001c0001t0001g0040 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0002g0140 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0010g0153 a0001c0001t0014g0179 a0001c0001t0029g0164 a0001c0005t0002g0002 a0001c0005t0002g0061 a0001c0005t0002g0162 a0001c0005t0002g0163 a0001c0005t0002g0165 a0001c0005t0002g0204 a0001c0005t0020g0062 a0002c0002t0003g0106 a0002c0002t0003g0108 a0002c0002t0003g0109 a0002c0002t0004g0080 a0002c0002t0004g0120 a0002c0002t0004g0161 a0002c0002t0004g0167 a0002c0002t0004g0177 a0002c0002t0046g0169 a0002c0013t0027g0079 a0004c0004t0004g0045 a0004c0004t0004g0058 a0004c0004t0004g0059 a0004c0004t0026g0057 a0005c0007t0001g0107 a0006c0010t0015g0168 a0007c0009t0002g0158 a0007c0009t0002g0159	36	218	0.1651	-33	c.55- others(48): Show c.55-4788_55-4756delCAAATAAAATAACATATGTTGTGTGAAGCA AAT		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATG2A_chr11_64889546_64922209	64895983	AATGCACC others(26): Show AATGCACCATGCACCTGCACTCACCCCTTAGCCG	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0032 a0032	a0032c0045 a0032c0045	a0032c0045t0001 a0032c0045t0001	a0032c0045t0001g0143 a0032c0045t0001g0143	1	370	0.0027	-33	c.542 others(50): Show c.5427+446_5427+478delCGGCTAAGGGGTGAGTGCAGGTGCATGG TGCAT		ATG2A	ENSG00000110046.14	transcript	ENST00000377264.8	protein_coding	39/40						chr11	TogoVar
ATG2B_chr14_96274195_96368341	96308245	TATATATA others(26): Show TATATATACACACATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0241 a0001c0003t0035g0241	1	342	0.0029	-33	c.430 others(52): Show c.4303+1175_4303+1207delTATATATATATATATATATATGTGTG TATATAT		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41						chr14	TogoVar
ATG2B_chr14_96274195_96368341	96308252	ACACACAT others(26): Show ACACACATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp1 NA20129.hp2 HG02559.hp1 HG03579.hp1 NA20129.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0009 a0008c0014t0009	a0008c0014t0009g0010 a0008c0014t0009g0107 a0008c0014t0009g0010 a0008c0014t0009g0107	3	353	0.0085	-33	c.430 others(52): Show c.4303+1168_4303+1200delAAATATATATATATATATATATATAT ATGTGTG		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41						chr14	TogoVar
ATP10B_chr5_160558120_160857211	160653398	CGTACATA others(26): Show CGTACATACATACATAGGTAGTATATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01069.hp1 others(39): Show HG00438.hp1 HG00558.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01515.hp1 HG02027.hp2 HG02080.hp2 HG02155.hp2 HG02257.hp1 HG02300.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp2 HG02970.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18957.hp2 NA18982.hp2 NA18986.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19067.hp1 NA19067.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0007 a0001c0002t0011 a0001c0002t0053 a0001c0006t0003 a0002c0003t0005 a0002c0003t0006 a0002c0004t0004 a0002c0004t0008 a0003c0007t0013 a0003c0007t0015	a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 others(39): Show a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0231 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0003g0043 a0001c0001t0003g0088 a0001c0001t0003g0092 a0001c0001t0008g0168 a0001c0002t0007g0076 a0001c0002t0007g0175 a0001c0002t0007g0180 a0001c0002t0007g0213 a0001c0002t0007g0224 a0001c0002t0007g0225 a0001c0002t0007g0229 a0001c0002t0011g0033 a0001c0002t0011g0129 a0001c0002t0011g0145 a0001c0002t0011g0226 a0001c0002t0053g0236 a0001c0006t0003g0104 a0001c0006t0003g0105 a0002c0003t0005g0063 a0002c0003t0006g0037 a0002c0004t0004g0136 a0002c0004t0004g0146 a0002c0004t0008g0050 a0003c0007t0013g0189 a0003c0007t0013g0222 a0003c0007t0015g0209 a0003c0007t0015g0215	42	176	0.2386	-33	c.676 others(50): Show c.676-4175_676-4143delATATGTATATATACTACCTATGTATGTA TGTAC		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653472	CATACATA others(26): Show CATACATAGGTAGTATATATACATATGTACATAT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp1 HG02647.hp1 others(10): Show HG02027.hp1 HG02080.hp1 HG02647.hp1 HG02647.hp2 NA18957.hp1 NA18968.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19083.hp1	a0001 a0025 a0001 a0025	a0001c0001 a0001c0002 a0025c0032 a0001c0001 a0001c0002 a0025c0032	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0007 a0001c0002t0011 a0025c0032t0011	a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0158 others(10): Show a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0008g0135 a0001c0001t0008g0172 a0001c0002t0007g0131 a0001c0002t0007g0167 a0001c0002t0007g0223 a0001c0002t0011g0084 a0001c0002t0011g0144 a0025c0032t0011g0036	13	137	0.0949	-33	c.676 others(50): Show c.676-4249_676-4217delATATGTACATATGTATATATACTACCTA TGTAT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653623	TATATATA others(26): Show TATATATACATATATACATATATATTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(71): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00738.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01496.hp2 HG01515.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02300.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03492.hp1 HG03540.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18982.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19067.hp2 NA19084.hp1 NA19240.hp1 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0004c0009 a0011c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0007 a0001c0002t0011 a0001c0002t0018 a0001c0002t0027 a0001c0002t0039 a0001c0002t0053 a0001c0006t0031 a0002c0004t0004 a0004c0009t0001 a0004c0009t0003 a0011c0031t0001	a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0060 others(71): Show a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0231 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0003g0043 a0001c0001t0003g0071 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0160 a0001c0001t0003g0191 a0001c0001t0008g0135 a0001c0001t0008g0168 a0001c0002t0007g0076 a0001c0002t0007g0175 a0001c0002t0007g0180 a0001c0002t0007g0213 a0001c0002t0007g0224 a0001c0002t0007g0225 a0001c0002t0007g0229 a0001c0002t0011g0033 a0001c0002t0011g0129 a0001c0002t0011g0144 a0001c0002t0011g0145 a0001c0002t0011g0226 a0001c0002t0018g0085 a0001c0002t0018g0161 a0001c0002t0027g0052 a0001c0002t0039g0119 a0001c0002t0053g0236 a0001c0006t0031g0194 a0002c0004t0004g0136 a0004c0009t0001g0059 a0004c0009t0001g0061 a0004c0009t0001g0114 a0004c0009t0003g0053 a0011c0031t0001g0150	74	206	0.3592	-33	c.676 others(50): Show c.676-4400_676-4368delGTATATATAATATATATGTATATATGTA TATAT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP11A_chr13_112685038_112892168	112811302	CCATGCCA others(26): Show CCATGCCAGGATTGGTGGAATTTAAAATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	252	0.0040	-33	c.441 others(48): Show c.441+579_441+611delTGCCAGGATTGGTGGAATTTAAAATTATTA TCA		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	5/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11B_chr3_182788504_182926629	182925798	GATGCCTC others(26): Show GATGCCTCATCACTTTGCCATATTCTACTCATTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0139 a0001c0001t0015g0139	1	322	0.0031	-33	c.76 others(44): Show c.7695_*7727delATGCCTCATCACTTTGCCATATTCTACTCATTA		ATP11B	ENSG00000058063.16	transcript	ENST00000323116.10	protein_coding					4170		chr3	TogoVar
ATP11C_chrX_139721348_139938053	139861701	ACAGTATT others(26): Show ACAGTATTACACTGTCTTAAGCAAATGCACAAAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	232	0.0043	-33	c.28- others(50): Show c.28-34911_28-34879delATTTGTGCATTTGCTTAAGACAGTGTAA TACTG		ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	1/29						chrX	TogoVar
ATP5MJ_chr14_103907288_103926529	103925915	TGACCTCA others(26): Show TGACCTCACGATCTGCCCACCTCAGCCTCCCAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	438	0.0023	-33	c.-44 others(44): Show c.-4479_-4447delTTTGGGAGGCTGAGGTGGGCAGATCGTGAGGTC		ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding					4387		chr14	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518475	TACACACA others(26): Show TACACACACACACACAACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	408	0.0025	-33	c.-10 others(52): Show c.-101-5696_-101-5664delGTGTGTGTGTGTGTGTGTTGTGTGTG TGTGTGT		ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4						chr2	TogoVar
ATP6V1H_chr8_53710543_53848245	53755712	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18747.hp1 NA18944.hp1 others(12): Show HG00621.hp2 NA18747.hp1 NA18944.hp1 NA18948.hp1 NA18961.hp1 NA18962.hp1 NA18977.hp1 NA18978.hp1 NA18990.hp1 NA18998.hp1 NA19006.hp1 NA19055.hp1 NA19063.hp2 NA19079.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0092 a0001c0001t0002g0104 others(12): Show a0001c0001t0002g0007 a0001c0001t0002g0092 a0001c0001t0002g0104 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0124 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0165 a0001c0001t0002g0169	15	280	0.0536	-33	c.127 others(50): Show c.1277+810_1277+842delATATATATATATATATATATATATATAT ATATA		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13						chr8	TogoVar
ATP7A_chrX_77905693_78055395	78004122	GACAAGTA others(26): Show GACAAGTAAAGATTTCCAGGATGTATTATTTACT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	231	0.0043	-33	c.170 others(50): Show c.1707+887_1707+919delACAAGTAAAGATTTCCAGGATGTATTAT TTACT		ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	6/22						chrX	TogoVar
ATP8A2_chr13_25366974_26030851	25531387	TATATATA others(26): Show TATATATATGATTATATATATGATTATATATATG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02015.hp1 HG02055.hp1 others(10): Show HG00738.hp1 HG02015.hp1 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02896.hp1 NA18952.hp1 NA18952.hp2 NA18977.hp1 NA18986.hp2 NA19004.hp1 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 others(9): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0027 a0001c0003t0060 a0001c0003t0062 a0001c0003t0065 a0001c0003t0069 a0001c0005t0012	a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0007g0109 others(10): Show a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0007g0109 a0001c0003t0009g0107 a0001c0003t0010g0026 a0001c0003t0014g0084 a0001c0003t0014g0111 a0001c0003t0027g0047 a0001c0003t0060g0115 a0001c0003t0062g0024 a0001c0003t0065g0033 a0001c0003t0069g0012 a0001c0005t0012g0020	13	120	0.1083	-33	c.420 others(48): Show c.420+736_420+768delGATTATATATATGATTATATATATGATATA TAT		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B3_chr19_1777075_1817276	1790382	CCCCCTCC others(26): Show CCCCCTCCCCTCCCTTCCCTCTCCCCTCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp2 HG02886.hp2 HG03041.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0251 a0002c0007t0004g0254 a0002c0007t0004g0251 a0002c0007t0004g0254	2	388	0.0052	-33	c.237 others(50): Show c.2378+342_2378+374delAGAGGGGAGGGGAGAGGGAAGGGAGGGG AGGGG		ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	21/28						chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50086398	TATTATAT others(26): Show TATTATATATAATAAAATAATATAGAGATCTATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0005 a0007c0008t0005	a0007c0008t0005g0099 a0007c0008t0005g0099	1	231	0.0043	-33	c.29- others(50): Show c.29-12246_29-12214delTATAGATCTCTATATTATTTTATTATAT ATAAT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50086716	AATAAAAT others(26): Show AATAAAATAATATAGAGATCTATATTTATTATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18960.hp1 NA18995.hp2 HG02055.hp1 NA18960.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0032 a0001c0001t0002g0045 a0001c0001t0025g0240 a0001c0001t0002g0032 a0001c0001t0002g0045 a0001c0001t0025g0240	3	252	0.0119	-33	c.29- others(50): Show c.29-12564_29-12532delATATAATAAATATAGATCTCTATATTAT TTTAT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
ATP9B_chr18_79064394_79383283	79352610	TGGCCTCG others(26): Show TGGCCTCGAAACCTCTGTGTTTCAACAGCCAGAG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03098.hp1 HG01358.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0140 a0001c0001t0001g0141	2	296	0.0068	-33	c.290 others(52): Show c.2903+4439_2903+4471delCAGCCAGAGGGCCTCGAAACCTCTGT GTTTCAA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATXN7L1_chr7_105599772_105881599	105619516	ATATATAT others(26): Show ATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp2 HG01261.hp1 others(13): Show HG00741.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG03098.hp2 HG03139.hp2 HG03540.hp1 HG04199.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0023 a0001c0001t0025 a0001c0001t0035 a0001c0001t0042	a0001c0001t0002g0108 a0001c0001t0004g0135 a0001c0001t0007g0024 others(13): Show a0001c0001t0002g0108 a0001c0001t0004g0135 a0001c0001t0007g0024 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0167 a0001c0001t0007g0196 a0001c0001t0008g0058 a0001c0001t0008g0229 a0001c0001t0010g0228 a0001c0001t0014g0136 a0001c0001t0014g0139 a0001c0001t0023g0008 a0001c0001t0025g0215 a0001c0001t0035g0207 a0001c0001t0042g0121	16	239	0.0669	-33	c.151 others(50): Show c.1517+651_1517+683delAAAAAAAAAAAAAAAAAAATATATATAT ATATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619518	ATATATAT others(26): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01175.hp2 HG02015.hp1 others(5): Show HG00673.hp2 HG01175.hp2 HG02015.hp1 HG02056.hp1 HG02148.hp1 HG02155.hp1 HG02300.hp2 HG03669.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0005c0011t0001	a0001c0001t0002g0082 a0001c0001t0004g0123 a0001c0001t0006g0014 others(5): Show a0001c0001t0002g0082 a0001c0001t0004g0123 a0001c0001t0006g0014 a0001c0001t0006g0127 a0001c0001t0007g0067 a0001c0001t0010g0091 a0001c0001t0020g0250 a0005c0011t0001g0092	8	246	0.0325	-33	c.151 others(50): Show c.1517+649_1517+681delAAAAAAAAAAAAAAAAAAAAATATATAT ATATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105662054	CCTTCCTT others(26): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0192 a0001c0001t0015g0192	1	250	0.0040	-33	c.578 others(50): Show c.578+2979_578+3011delAGAAAGAAGGAAGGAAGGAAGGAAGGAA GGAAG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
AUTS2_chr7_69593475_70798506	70633984	TATATCAT others(26): Show TATATCATCAGTGCTGATTCTAGGTACTAGATCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG02630.hp2 others(4): Show HG00280.hp1 HG00597.hp1 HG02630.hp2 HG03239.hp1 HG04199.hp1 NA18952.hp2 NA20752.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0004c0006 others(1): Show a0001c0001 a0001c0003 a0004c0006 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0003t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0008 a0004c0006t0003 a0005c0009t0001	a0001c0001t0001g0071 a0001c0001t0003g0033 a0001c0001t0003g0035 others(4): Show a0001c0001t0001g0071 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0068 a0001c0003t0008g0069 a0004c0006t0003g0030 a0005c0009t0001g0043	7	76	0.0921	-33	c.691 others(52): Show c.691-64525_691-64493delTAGATCCATATCATCAGTGCTGATTC TAGGTAC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678912	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	441	0.0023	-33	c.287 others(48): Show c.287+674_287+706delCACACACACACACACACACACACACACACA CAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
B3GAT2_chr6_70851679_70962060	70878506	TATAGTTT others(26): Show TATAGTTTATCTCTTTATTGTCCATCTCCATCAC	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0129 a0001c0001t0013g0129	1	314	0.0032	-33	c.736 others(52): Show c.736+15589_736+15621delGTGATGGAGATGGACAATAAAGAGAT AAACTAT		B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	2/3						chr6	TogoVar
B3GAT2_chr6_70851679_70962060	70961917	CTACATCA others(26): Show CTACATCAAGTGCCTGATTTGTGCAAAATATTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0143 a0001c0001t0066g0143	1	314	0.0032	-33	c.-55 others(44): Show c.-5521_-5489delATAATATTTTGCACAAATCAGGCACTTGATGTA		B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding					4858		chr6	TogoVar
B9D1_chr17_19338175_19367723	19346735	GCCGTCCT others(26): Show GCCGTCCTGGCCACACCACCGTCCTGGCTTCTCT	G G	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	352	0.0028	-33	c.404 others(48): Show c.404+501_404+533delAGAGAAGCCAGGACGGTGGTGTGGCCAGGA CGG		B9D1	ENSG00000108641.20	transcript	ENST00000261499.11	protein_coding	5/6						chr17	TogoVar
BAG1_chr9_33247471_33269708	33251886	GAGAAGGG others(26): Show GAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG00621.hp2 others(43): Show HG00280.hp2 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG01069.hp1 HG01175.hp1 HG01175.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp1 HG01978.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03225.hp1 HG03453.hp2 HG03492.hp1 HG03516.hp1 HG03927.hp2 HG04228.hp1 NA18950.hp2 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18999.hp2 NA19002.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19068.hp1 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0023 a0001c0001t0027 a0001c0001t0033 a0001c0001t0046 a0001c0001t0047 a0001c0002t0002 a0001c0010t0002	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0106 a0001c0001t0002g0002 a0001c0001t0002g0070 a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0093 a0001c0001t0006g0010 a0001c0001t0006g0032 a0001c0001t0013g0033 a0001c0001t0023g0035 a0001c0001t0027g0059 a0001c0001t0033g0094 a0001c0001t0046g0097 a0001c0001t0047g0105 a0001c0002t0002g0008 a0001c0002t0002g0024 a0001c0002t0002g0120 a0001c0010t0002g0117	46	70	0.6571	-33	c.33 others(44): Show c.3300_*3332delTCTCCCGTGAGAAGGGGAGAGAGCACCCCTTCT		BAG1	ENSG00000107262.26	transcript	ENST00000634734.3	protein_coding					584		chr9	TogoVar
BAG4_chr8_38171855_38218301	38201854	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 NA18952.hp1 others(3): Show HG00438.hp2 HG00738.hp1 NA18952.hp1 NA18990.hp2 NA18999.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0002 a0001c0001t0025 a0002c0007t0002 a0001c0001t0002 a0001c0001t0025 a0002c0007t0002	a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0035 others(3): Show a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0077 a0001c0001t0025g0062 a0002c0007t0002g0070	6	299	0.0201	-33	c.379 others(50): Show c.379-5656_379-5624delATATATATATATATATATATATATATTT TTTTT		BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201856	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(46): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01168.hp2 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02074.hp2 HG02258.hp2 HG02300.hp1 HG02523.hp2 HG03239.hp1 HG03688.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18949.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18966.hp1 NA18977.hp1 NA18983.hp1 NA18986.hp2 NA18995.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19079.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0016 others(44): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0096 a0001c0001t0009g0038	49	295	0.1661	-33	c.379 others(50): Show c.379-5654_379-5622delATATATATATATATATATATATATTTTT TTTTT		BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201858	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02080.hp2 HG02165.hp2 others(2): Show HG00642.hp1 HG02080.hp2 HG02165.hp2 NA18522.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0046 others(2): Show a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0098	5	300	0.0167	-33	c.379 others(50): Show c.379-5652_379-5620delATATATATATATATATATATATTTTTTT TTTTT		BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
BAIAP2_chr17_81030151_81122434	81119129	CCAGGTGA others(26): Show CCAGGTGAGGGCCAGGTGAGGGTCAGGTGAGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01496.hp1 HG01975.hp1 others(4): Show HG00280.hp2 HG01496.hp1 HG01975.hp1 HG02451.hp1 HG03688.hp2 HG03710.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0016 a0001c0003t0016 a0002c0002t0002 a0001c0001t0016 a0001c0003t0016 a0002c0002t0002	a0001c0001t0016g0337 a0001c0003t0016g0231 a0002c0002t0002g0159 others(4): Show a0001c0001t0016g0337 a0001c0003t0016g0231 a0002c0002t0002g0159 a0002c0002t0002g0282 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0315	7	295	0.0237	-33	c.32 others(44): Show c.3291_*3323delCAGGTGAGGGCCAGGTGAGGGTCAGGTGAGGGT		BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding					1696		chr17	TogoVar
BAIAP3_chr16_1328645_1354439	1340048	TAGGTGCA others(26): Show TAGGTGCACACAGACACGCACACACACAGGCTGC	T T	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	353	0.0028	-33	c.408 others(48): Show c.408+462_408+494delGCACACACACAGGCTGCAGGTGCACACAGA CAC		BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr16	TogoVar
BAZ2B_chr2_159313979_159621548	159325059	ATTATATA others(26): Show ATTATATATATATATATATTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03209.hp2 NA18950.hp2 others(3): Show HG02895.hp2 HG03209.hp2 NA18950.hp2 NA18965.hp1 NA18983.hp1 NA19007.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0007c0010	a0001c0001t0002 a0002c0002t0001 a0005c0005t0002 others(1): Show a0001c0001t0002 a0002c0002t0001 a0005c0005t0002 a0007c0010t0003	a0001c0001t0002g0148 a0002c0002t0001g0049 a0002c0002t0001g0124 others(3): Show a0001c0001t0002g0148 a0002c0002t0001g0049 a0002c0002t0001g0124 a0005c0005t0002g0167 a0005c0005t0002g0173 a0007c0010t0003g0002	6	192	0.0313	-33	c.621 others(50): Show c.6210-138_6210-106delATATATATATATATAATATATATATATA TATAA		BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36						chr2	TogoVar
BBS10_chr12_76339474_76353415	76349643	CCAGGCTG others(26): Show CCAGGCTGATCTTGAATTCCTGGCCTCAAGTGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	414	0.0024	-33	c.-13 others(44): Show c.-1318_-1286delATCACTTGAGGCCAGGAATTCAAGATCAGCCTG		BBS10	ENSG00000179941.9	transcript	ENST00000650064.2	protein_coding					1229		chr12	TogoVar
BCAN_chr1_156637117_156664528	156660507	CTCATGAT others(26): Show CTCATGATGAGGATGAATCATTGCTGCAGATCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	418	0.0024	-33	c.13 others(44): Show c.1374_*1406delTCATGATGAGGATGAATCATTGCTGCAGATCCT		BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding					980		chr1	TogoVar
BCAP29_chr7_107575246_107625478	107622972	AGATAACA others(26): Show AGATAACATTTTCCATCTCCTTGTATGTAAGTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	390	0.0026	-33	c.46 others(44): Show c.4610_*4642delGATAACATTTTCCATCTCCTTGTATGTAAGTGG		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding					2495		chr7	TogoVar
BCL11A_chr2_60452194_60558654	60507350	AAGGGAAG others(26): Show AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	248	0.0040	-33	c.386 others(52): Show c.386-38550_386-38518delCCCTCCCTTCCCTTCCCTTCCCTTCC CTTCCCT		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3						chr2	TogoVar

Search by Variant

Search

Search Results