Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(44): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGAGGA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG03516.hp1 NA20805.hp1 HG01081.hp2 HG03516.hp1 NA20805.hp1	a0004 a0020 a0004 a0020	a0004c0004 a0020c0027 a0004c0004 a0020c0027	a0004c0004t0001 a0020c0027t0001 a0004c0004t0001 a0020c0027t0001	a0004c0004t0001g0002 a0020c0027t0001g0001 a0004c0004t0001g0002 a0020c0027t0001g0001	3	410	0.0073	51	c.33 others(62): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGA GGAGGAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
AMPH_chr7_38378704_38636373	38451319	A A	ATATATAC others(44): Show ATATATACACGTATATATACATATATACGTTATATACACGTATATATATG TG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp1 HG02080.hp2 others(27): Show HG00621.hp1 HG02056.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp2 HG02165.hp2 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02976.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp1 NA18945.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18988.hp1 NA19007.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19084.hp1 NA20905.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0007 a0001c0009 others(2): Show a0001c0001 a0001c0007 a0001c0009 a0004c0011 a0008c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0007t0001 a0001c0007t0005 a0001c0009t0006 a0004c0011t0001 a0008c0015t0001	a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0073 others(27): Show a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0130 a0001c0001t0001g0190 a0001c0001t0001g0205 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0003g0185 a0001c0001t0003g0250 a0001c0001t0003g0278 a0001c0001t0003g0285 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0007t0001g0090 a0001c0007t0005g0263 a0001c0009t0006g0077 a0004c0011t0001g0072 a0008c0015t0001g0226	30	288	0.1042	51	c.101 others(70): Show c.1017+9963_1017+9964insCACATATATATACGTGTATATAACGT ATATATGTATATATACGTGTATATA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38610332	A A	AGAGAGAG others(44): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	288	0.0035	51	c.69+ others(68): Show c.69+20950_69+20951insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTC	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANAPC5_chr12_121303245_121357411	121352712	T T	TTGGTGGT others(44): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	278	0.0036	51	c.-37 others(60): Show c.-373_-372insCCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		302		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGGTGGT others(44): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	278	0.0036	51	c.-37 others(60): Show c.-379_-378insCCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANGPTL5_chr11_101885674_101921522	101889419	G G	GAAAGAGA others(44): Show GAAAGAGAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	422	0.0024	51	c.18 others(62): Show c.1859_*1860insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTC TTTCTTTCTTTCTCTTT	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1254		chr11	TogoVar
ANKRD11_chr16_89262630_89495561	89328861	T T	TGGAGGCC others(44): Show TGGAGGCCCCTGCTGAGTGAGTGGACACACCCAGGCGCACGGGCGAATCA GC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0030 a0030	a0030c0053 a0030c0053	a0030c0053t0001 a0030c0053t0001	a0030c0053t0001g0138 a0030c0053t0001g0138	1	310	0.0032	51	c.-59 others(70): Show c.-59-11784_-59-11783insGCTGATTCGCCCGTGCGCCTGGGTGT GTCCACTCACTCAGCAGGGGCCTCC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD12_chr18_9131781_9290985	9196122	C C	CACACACA others(44): Show CACACACACACACATTGAGGCTAACTGCCTCAGTGCTTTTCATAGAATTT TT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19240.hp1 HG01891.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0160 a0002c0002t0032g0161 a0002c0002t0032g0160 a0002c0002t0032g0161	2	318	0.0063	51	c.235 others(66): Show c.235+437_235+438insTTGAGGCTAACTGCCTCAGTGCTTTTCATA GAATTTTTACACACACACACA	ANKRD12	ENSG00000101745.17	transcript	ENST00000262126.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD30B_chr18_14743172_14859667	14846948	T T	TCCACCCC others(44): Show TCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	316	0.0032	51	c.318 others(70): Show c.3182-1767_3182-1766insCACCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCC	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding	39/43		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD34A_chr1_145954441_145969575	145956782	A A	AAACTACC others(44): Show AAACTACCCTAGTTAAACGAAAACAACAAAGAAAACCCTCACATCCCTCT TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0025 a0001c0001t0018g0025	1	390	0.0026	51	c.34 others(62): Show c.3436_*3486dupAAAGAGGGATGTGAGGGTTTTCTTTGTTGTTTTC GTTTAACTAGGGTAGTT	ANKRD34A	ENSG00000272031.3	transcript	ENST00000606888.3	protein_coding		2658		chr1	TogoVar
ANKS1B_chr12_98738974_99989936	99139440	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0003 a0001c0004t0012g0003	1	48	0.0208	51	c.252 others(72): Show c.2526+14848_2526+14849insGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99493386	G G	GGGAAGTG others(44): Show GGGAAGTGTTACAAGGGAAACAGGACTTTAGGAAACTATTATAATAGTCC AA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03453.hp2 HG02145.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0012 a0001c0001t0019g0014 a0001c0001t0002g0012 a0001c0001t0019g0014	2	48	0.0417	51	c.143 others(72): Show c.1438+11039_1438+11089dupTTGGACTATTATAATAGTTTCCTA AAGTCCTGTTTCCCTTGTAACACTTCC	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	10/26			chr12	TogoVar
ANP32A_chr15_68773535_68825895	68807365	C C	CCCGGGGC others(44): Show CCCGGGGCAAGGGGATGCCTGCAGCTTGGCTGGTATTCCTCCCGCCCCAC CT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	354	0.0028	51	c.54+ others(68): Show c.54+13282_54+13332dupAGGTGGGGCGGGAGGAATACCAGCCAAG CTGCAGGCATCCCCTTGCCCCGG	ANP32A	ENSG00000140350.15	transcript	ENST00000465139.6	protein_coding	1/6			chr15	TogoVar
AOX1_chr2_200581014_200676495	200657190	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0009 a0006c0010t0009	a0006c0010t0009g0106 a0006c0010t0009g0106	1	370	0.0027	51	c.317 others(68): Show c.3171+254_3171+255insATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP3S2_chr15_89825599_89898994	89854666	T T	TGCCCGGC others(44): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCC CC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0113 a0001c0001t0015g0113	1	312	0.0032	51	c.345 others(70): Show c.345+16808_345+16809insGGGGGGGCCGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854796	T T	TGGGGGGG others(44): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	312	0.0032	51	c.345 others(70): Show c.345+16628_345+16678dupCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854894	T T	TGGGGGGG others(44): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0082 a0001c0001t0005g0082	1	312	0.0032	51	c.345 others(70): Show c.345+16580_345+16581insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(44): Show AAGGAGAAGGAGAAGGAGAAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0022 a0002c0001t0022	a0002c0001t0022g0091 a0002c0001t0022g0091	1	192	0.0052	51	c.-41 others(72): Show c.-416-16766_-416-16765insCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTTCTCCTTCTCCTTCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APLP2_chr11_130064894_130149805	130090900	C C	CCCCCCCA others(44): Show CCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGA CA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0128 a0002c0002t0002g0128	1	274	0.0037	51	c.106 others(70): Show c.106-18524_106-18523insCATCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCCGACACCCCC	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APLP2_chr11_130064894_130149805	130090937	C C	CGGGGGGG others(44): Show CGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02148.hp1 HG02056.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0171 a0001c0001t0001g0126 a0001c0001t0001g0171	2	274	0.0073	51	c.106 others(70): Show c.106-18486_106-18485insGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGG	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	401	0.0025	51	c.-63 others(60): Show c.-637_-636insAAAAAAAAAAAAAAAAAATATATATATATATATATA TATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35730345	G G	GGTGCGGA others(44): Show GGTGCGGAGGCTCACGTCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGG GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0003 a0008c0010t0001g0003	1	401	0.0025	51	c.99 others(60): Show c.998_*999insGTGCGGAGGCTCACGTCTGTAATCCCAGCACTTTGG GAAGCCGAGGTGGGC	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		863		chr22	TogoVar
ARFRP1_chr20_63693647_63712976	63693687	A A	ACCACCTC others(44): Show ACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCAC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	296	0.0034	51	c.67 others(62): Show c.6755_*6756insAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4959		chr20	TogoVar
ARFRP1_chr20_63693647_63712976	63693723	A A	ACCTCCAC others(44): Show ACCTCCACCTCCACCTCCACCACCACCACCACCACCTCCACCACCTCCAC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	296	0.0034	51	c.67 others(62): Show c.6719_*6720insAGGTGGAGGTGGTGGAGGTGGTGGTGGTGGTGGT GGAGGTGGAGGTGGAGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4923		chr20	TogoVar
ARHGAP21_chr10_24578614_24728887	24656753	G G	GCCCCCCG others(44): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCG GC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	352	0.0028	51	c.268 others(70): Show c.268+10231_268+10232insGCCGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGG	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656848	T T	TCGGCCCC others(44): Show TCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	352	0.0028	51	c.268 others(70): Show c.268+10136_268+10137insTCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCCG	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656938	T T	TCGGGGGG others(44): Show TCGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	352	0.0028	51	c.268 others(70): Show c.268+10046_268+10047insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCG	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656938	T T	TGGGGGGG others(44): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01169.hp2 others(21): Show HG00323.hp1 HG00639.hp2 HG01169.hp2 HG01978.hp1 HG01993.hp1 HG02083.hp2 HG02109.hp1 HG02970.hp2 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03710.hp1 HG03834.hp2 HG06807.hp1 NA18941.hp2 NA18970.hp1 NA18986.hp1 NA18988.hp1 NA18998.hp2 NA19002.hp2 NA19078.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp1	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0011 a0012	a0001c0001 a0003c0003 a0009c0008 others(2): Show a0001c0001 a0003c0003 a0009c0008 a0011c0011 a0012c0010	a0001c0001t0001 a0003c0003t0001 a0009c0008t0001 others(2): Show a0001c0001t0001 a0003c0003t0001 a0009c0008t0001 a0011c0011t0001 a0012c0010t0001	a0001c0001t0001g0012 a0001c0001t0001g0169 a0001c0001t0001g0185 others(21): Show a0001c0001t0001g0012 a0001c0001t0001g0169 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0273 a0003c0003t0001g0175 a0003c0003t0001g0198 a0003c0003t0001g0206 a0003c0003t0001g0215 a0003c0003t0001g0223 a0003c0003t0001g0265 a0009c0008t0001g0261 a0011c0011t0001g0259 a0012c0010t0001g0267	24	352	0.0682	51	c.268 others(70): Show c.268+10046_268+10047insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCC	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP23_chr17_38423464_38517385	38513099	T T	TATATATA others(44): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0017 a0017	a0017c0057 a0017c0057	a0017c0057t0001 a0017c0057t0001	a0017c0057t0001g0282 a0017c0057t0001g0282	1	309	0.0032	51	c.21 others(62): Show c.2127_*2128insATATATATATATATATATATATATATATATATAT ATATATATATATATATA	ARHGAP23	ENSG00000275832.5	transcript	ENST00000622683.5	protein_coding		715		chr17	TogoVar
ARHGAP24_chr4_85470150_86007666	85487690	A A	AAATATAT others(44): Show AAATATATATTTATTATATTATATAAATATATATTTATATTATATATTAT AT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	108	0.0093	51	c.-21 others(70): Show c.-21+12150_-21+12200dupTATATAAATATATATTTATATTATAT ATTATATAATATATATTTATTATAT	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP26_chr5_142765377_143234007	142949232	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGA GA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0084 a0001c0001t0006g0084	1	198	0.0051	51	c.110 others(72): Show c.1107+17107_1107+17108insAGAGAGAGAGAGAGAGGAGAGAGG AGAGAGAGAGAGAGAGAGAGAGAGAGA	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	11/22			chr5	TogoVar
ARHGAP27_chr17_45388908_45437870	45419137	C C	CACACTAA others(44): Show CACACTAAACCAGCTGCCGCTACCAGACCCCAGCACAGCCGGGACCCAGG AT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 NA21309.hp2 HG01891.hp2 HG02717.hp1 NA21309.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0008 a0006c0006t0014 a0006c0006t0008 a0006c0006t0014	a0006c0006t0008g0180 a0006c0006t0008g0182 a0006c0006t0014g0181 a0006c0006t0008g0180 a0006c0006t0008g0182 a0006c0006t0014g0181	3	347	0.0087	51	c.657 others(70): Show c.657+10485_657+10486insATCCTGGGTCCCGGCTGTGCTGGGGT CTGGTAGCGGCAGCTGGTTTAGTGT	ARHGAP27	ENSG00000159314.13	transcript	ENST00000685559.1	protein_coding	4/19			chr17	TogoVar
ARHGAP39_chr8_144524179_144690846	144626292	C C	CGCGGCCC others(44): Show CGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCC CG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	246	0.0041	51	c.-81 others(70): Show c.-81-20598_-81-20597insCGGGACAGGGGCTGCCGCAGTGTGCA GTGGGTGCTCCGTGAACGGGGCCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGDIG_chr16_275591_288010	285949	C C	CCCCGCGG others(44): Show CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	442	0.0023	51	c.31 others(62): Show c.3135_*3136insCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCT CCCAACCCCGCGGTTCT	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2940		chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1841979	G G	GACCGGAA others(44): Show GACCGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGG CC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0188 a0002c0031t0001g0188	1	363	0.0028	51	c.-47 others(68): Show c.-47-1374_-47-1373insACCGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCGGCGGGAACTGGGGCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1954944	T T	TGGATAGC others(44): Show TGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTG GA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0024 a0024	a0024c0094 a0024c0094	a0024c0094t0016 a0024c0094t0016	a0024c0094t0016g0103 a0024c0094t0016g0103	1	363	0.0028	51	c.352 others(70): Show c.3521-1761_3521-1711dupCCTCTGGAGGATAGCCAGGTGCTCCC TGAAAGGAGGTGCACTCTCACTGTT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955189	T T	TGTTCCTC others(44): Show TGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCTCA CA	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18951.hp1 HG02683.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0006 a0001c0016t0002 a0001c0001t0006 a0001c0016t0002	a0001c0001t0006g0115 a0001c0016t0002g0261 a0001c0001t0006g0115 a0001c0016t0002g0261	2	363	0.0055	51	c.352 others(70): Show c.3521-1557_3521-1556insCCTCTGGAGGATAGCCAGGTGCATCC TGGAAGGAGGCACACTCTCACAGTT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111254586	T T	TCAGAAGA others(44): Show TCAGAAGAGGATTCGGGCTAAGGCGCTGAGTCGCTAACGTGAAGGCCGGG CC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	274	0.0037	51	c.950 others(70): Show c.950+10853_950+10903dupCCAGAAGAGGATTCGGGCTAAGGCGC TGAGTCGCTAACGTGAAGGCCGGGC	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARID1B_chr6_156772378_157215779	156893045	C C	CTTTTTTT others(44): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	150	0.0067	51	c.198 others(70): Show c.1987-8316_1987-8315insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARL15_chr5_53878942_54315573	54029372	C C	CACCACCA others(44): Show CACCACCACTACCACCACCACCACCACCACCACCACCACCACCACCACCA CT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	206	0.0049	51	c.462 others(70): Show c.462+83829_462+83830insAGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTAGTGGTGGT	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4			chr5	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 NA19085.hp2 HG02056.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0018 a0001c0002t0002g0003 a0001c0002t0002g0018	2	434	0.0046	51	c.62 others(62): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TATTTATA others(44): Show TATTTATACTTTATATATATATACTTTATATATATATATTTTTATATATA TA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0141 a0001c0002t0003g0141	1	314	0.0032	51	c.478 others(70): Show c.4786-1644_4786-1643insTATATATATAAAAATATATATATATA AAGTATATATATATAAAGTATAAAT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASIP_chr20_34236423_34274344	34258779	G G	GTATATAT others(44): Show GTATATATAGTGTATATATAATATATGATATATATAATACTATATATAGT AT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	306	0.0033	51	c.-10 others(68): Show c.-10-1578_-10-1577insGTGTATATATAATATATGATATATATAA TACTATATATAGTATTATATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1405228	G G	GGTAGATG others(44): Show GGTAGATGATGGGTACGTAGATGAATGGATGGATAGATGGATGCATGGAT GA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0147 a0013c0036t0001g0147	1	185	0.0054	51	c.164 others(70): Show c.1646-1740_1646-1739insTCATCCATGCATCCATCTATCCATCC ATTCATCTACGTACCCATCATCTAC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(44): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG02165.hp2 others(2): Show HG00280.hp2 HG00423.hp2 HG02165.hp2 HG02965.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	5	464	0.0108	51	c.42 others(62): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ATP10A_chr15_25673712_25868327	25758197	A A	ACTCATTC others(44): Show ACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	300	0.0033	51	c.655 others(70): Show c.655-22057_655-22056insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758572	C C	CCACCTGC others(44): Show CCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCG AT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0291 a0004c0004t0002g0291	1	300	0.0033	51	c.655 others(70): Show c.655-22432_655-22431insATCGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653598	C C	CATATACA others(44): Show CATATACATATATACATATATACATATACATATATACATATATACATATA TT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0030 a0020c0030t0030	a0020c0030t0030g0217 a0020c0030t0030g0217	1	236	0.0042	51	c.676 others(68): Show c.676-4343_676-4342insAATATATGTATATATGTATATATGTATA TGTATATATGTATATATGTATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112778570	G G	GCTGGAGT others(44): Show GCTGGAGTGAGTAGCCACTGGAATGAGTAGCCGCTGGTTTGAGGAGTAGC CA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0075 a0001c0009t0075	a0001c0009t0075g0153 a0001c0009t0075g0153	1	254	0.0039	51	c.40- others(66): Show c.40-6549_40-6499dupACTGGAATGAGTAGCCGCTGGTTTGAGGAG TAGCCACTGGAGTGAGTAGCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718682	G G	GGGGTGCA others(44): Show GGGGTGCAGTCACGGATGTCTGCGGAGGGAGACGTCCAGGAAGGAATGGG GC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03834.hp2 HG03239.hp1 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0256 a0002c0002t0001g0294 a0002c0002t0001g0256 a0002c0002t0001g0294	2	376	0.0053	51	c.214 others(70): Show c.2140-2802_2140-2801insGCCCCATTCCTTCCTGGACGTCTCCC TCCGCAGACATCCGTGACTGCACCC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar

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