Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASMT_chrX_1610059_1648081	1610513	GCCTCCAG others(27): Show GCCTCCAGGCCGCCTCTGACCCTGCTCCAGCCAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	221	0.0045	-34	c.-46 others(45): Show c.-4686_-4653delCCTCCAGGCCGCCTCTGACCCTGCTCCAGCCAAA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		4545		chrX	TogoVar
ASMT_chrX_1610059_1648081	1610565	CCCCTACT others(27): Show CCCCTACTCCAGCTAAGACTCCAGGCCACCCCTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	167	0.0060	-34	c.-46 others(45): Show c.-4634_-4601delCCCTACTCCAGCTAAGACTCCAGGCCACCCCTGA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		4493		chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665596	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0090 a0001c0010t0001g0090	1	82	0.0122	-34	c.-93 others(49): Show c.-93+147_-93+180delGTATATATATATATATATATATATATATAT ATAT	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASRGL1_chr11_62332448_62398412	62362627	TAAAATAT others(27): Show TAAAATATATATAATATATAATATATATTATATAA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp2 NA19030.hp2 HG02622.hp1 HG02630.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0038 a0001c0001t0021 a0001c0001t0038	a0001c0001t0021g0330 a0001c0001t0021g0332 a0001c0001t0038g0333 a0001c0001t0021g0330 a0001c0001t0021g0332 a0001c0001t0038g0333	3	368	0.0082	-34	c.491 others(51): Show c.491+5486_491+5519delAATATATATAATATATAATATATATTAT ATAAAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASTN2_chr9_116418112_117420057	116530118	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	100	0.0100	-34	c.335 others(55): Show c.3356-42652_3356-42619delTTATATATATATATATATATATAT ATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116623147	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01081.hp2 others(13): Show HG00099.hp2 HG00639.hp2 HG01081.hp2 HG01099.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01934.hp1 HG02004.hp2 HG03239.hp2 HG04199.hp1 NA18959.hp1 NA19010.hp1 NA19012.hp1 NA19065.hp1 NA19066.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0017 a0003c0019	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0009t0004 a0001c0010t0001 a0001c0010t0004 a0001c0017t0002 a0003c0019t0002	a0001c0001t0001g0053 a0001c0001t0004g0059 a0001c0002t0001g0042 others(13): Show a0001c0001t0001g0053 a0001c0001t0004g0059 a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0002g0060 a0001c0002t0003g0022 a0001c0002t0003g0068 a0001c0002t0004g0043 a0001c0002t0004g0061 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0009t0004g0032 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0017t0002g0089 a0003c0019t0002g0025	16	23	0.6957	-34	c.307 others(53): Show c.3073-2738_3073-2705delCACACACACACACACACACACACACA CACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803500	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03209.hp2 NA19043.hp1 others(1): Show HG02922.hp1 HG03209.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0006 a0001c0005t0005 a0001c0001t0001 a0001c0001t0006 a0001c0005t0005	a0001c0001t0001g0099 a0001c0001t0006g0016 a0001c0005t0005g0007 others(1): Show a0001c0001t0001g0099 a0001c0001t0006g0016 a0001c0005t0005g0007 a0001c0005t0005g0084	4	97	0.0412	-34	c.239 others(53): Show c.2396+2098_2396+2131delAAAAAAAAAAAATATATATATATATA TATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ATF7IP_chr12_14360682_14507930	14494284	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01891.hp1 others(1): Show HG00099.hp1 HG00280.hp1 HG01891.hp1 HG02559.hp1	a0003 a0009 a0003 a0009	a0003c0003 a0009c0011 a0003c0003 a0009c0011	a0003c0003t0025 a0009c0011t0024 a0003c0003t0025 a0009c0011t0024	a0003c0003t0025g0172 a0003c0003t0025g0173 a0009c0011t0024g0150 others(1): Show a0003c0003t0025g0172 a0003c0003t0025g0173 a0009c0011t0024g0150 a0009c0011t0024g0151	4	125	0.0320	-34	c.328 others(53): Show c.3281-1930_3281-1897delATATATATATATATATATATATATAT ATATATAT	ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATG12_chr5_115823200_115846565	115846130	CGGTTGTG others(27): Show CGGTTGTGATTCCATAGTGTATCCTCTGGTGAATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	365	0.0027	-34	c.-46 others(45): Show c.-4612_-4579delAATTCACCAGAGGATACACTATGGAATCACAACC	ATG12	ENSG00000145782.13	transcript	ENST00000509910.2	protein_coding		4566		chr5	TogoVar
ATG14_chr14_55361391_55416830	55394168	AGCTAATT others(27): Show AGCTAATTTTTCTATTTTTAGTACAGATGGGGTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02965.hp2 others(4): Show HG01884.hp2 HG02145.hp2 HG02965.hp2 HG03209.hp1 HG03486.hp2 NA18522.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0011 a0001c0001t0014 a0002c0003t0011 a0001c0001t0011 a0001c0001t0014 a0002c0003t0011	a0001c0001t0011g0107 a0001c0001t0014g0218 a0001c0001t0014g0255 others(4): Show a0001c0001t0011g0107 a0001c0001t0014g0218 a0001c0001t0014g0255 a0001c0001t0014g0256 a0002c0003t0011g0035 a0002c0003t0011g0036 a0002c0003t0011g0042	7	364	0.0192	-34	c.327 others(51): Show c.327+1738_327+1771delAAACCCCATCTGTACTAAAAATAGAAAA ATTAGC	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	3/9			chr14	TogoVar
ATG14_chr14_55361391_55416830	55402922	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	323	0.0031	-34	c.222 others(51): Show c.222-5522_222-5489delATATATATATATATATATATATATATAT ATTTTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96308231	CATATATA others(27): Show CATATATATATATATATATATACACACATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0309 a0001c0002t0055g0309	1	279	0.0036	-34	c.430 others(53): Show c.4303+1188_4303+1221delATATATATGTGTGTATATATATATAT ATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96308250	ATACACAC others(27): Show ATACACACATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0251 a0001c0002t0051g0251	1	354	0.0028	-34	c.430 others(53): Show c.4303+1169_4303+1202delAATATATATATATATATATATATATA TGTGTGTA	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar
ATG4A_chrX_108086778_108159671	108148020	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	5	0.2000	-34	c.815 others(51): Show c.815-2109_815-2076delATATATATATATATATATATATATATAT ATATAT	ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG7_chr3_11267397_11562665	11545658	GCTCCGTG others(27): Show GCTCCGTGTCCCGAGCAGCCCTGCCAGGCCTAGCT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02630.hp1 others(6): Show HG02258.hp1 HG02280.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02896.hp2 HG03041.hp1 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0037 a0001c0002t0042 a0001c0002t0007 a0001c0002t0037 a0001c0002t0042	a0001c0002t0007g0098 a0001c0002t0007g0182 a0001c0002t0007g0183 others(6): Show a0001c0002t0007g0098 a0001c0002t0007g0182 a0001c0002t0007g0183 a0001c0002t0007g0184 a0001c0002t0007g0186 a0001c0002t0007g0187 a0001c0002t0007g0188 a0001c0002t0037g0181 a0001c0002t0042g0180	9	290	0.0310	-34	c.208 others(53): Show c.2080-9148_2080-9115delGTGTCCCGAGCAGCCCTGCCAGGCCT AGCTCTCC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATL2_chr2_38288954_38382273	38325665	CACACACA others(27): Show CACACACACACACACACACACACACACACACCAGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp2 HG01952.hp2 others(10): Show HG00323.hp1 HG01106.hp2 HG01952.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02886.hp1 HG03453.hp2 HG04228.hp1 NA18955.hp1 NA19030.hp1 NA19056.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0002c0002t0001 a0002c0006t0022	a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0078 others(10): Show a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0091 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0004g0138 a0001c0001t0007g0089 a0001c0001t0008g0098 a0001c0003t0001g0148 a0001c0003t0001g0149 a0002c0002t0001g0208 a0002c0006t0022g0204	13	233	0.0558	-34	c.364 others(51): Show c.364-6680_364-6647delACTGGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATP10B_chr5_160558120_160857211	160651289	TGAACAGT others(27): Show TGAACAGTCTTGTAGCTAAGTATTTTTTTTAAAGG	T T	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0053 a0004c0009t0003g0053	1	234	0.0043	-34	c.676 others(51): Show c.676-2067_676-2034delCCTTTAAAAAAAATACTTAGCTACAAGA CTGTTC	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160718621	AAAGAGAC others(27): Show AAAGAGACAAAACCCCAGGGGTGTCCTGGCTTTAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02970.hp1 HG02280.hp2 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0006 a0002c0004t0008 a0002c0003t0006 a0002c0004t0008	a0002c0003t0006g0220 a0002c0004t0008g0221 a0002c0003t0006g0220 a0002c0004t0008g0221	2	234	0.0085	-34	c.-33 others(53): Show c.-330-1621_-330-1588delATAAAGCCAGGACACCCCTGGGGTTT TGTCTCTT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	2/25			chr5	TogoVar
ATP10D_chr4_47480275_47598486	47528483	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0285 a0002c0002t0002g0285	1	330	0.0030	-34	c.776 others(51): Show c.776+2843_776+2876delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATAT	ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP11A_chr13_112685038_112892168	112804207	TTCCCTCC others(27): Show TTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03239.hp1 NA18974.hp1 others(3): Show HG00639.hp2 HG03239.hp1 NA18974.hp1 NA19011.hp2 NA19065.hp1 NA19074.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0006 others(1): Show a0001c0004 a0001c0005 a0001c0006 a0001c0031	a0001c0004t0002 a0001c0005t0065 a0001c0006t0001 others(1): Show a0001c0004t0002 a0001c0005t0065 a0001c0006t0001 a0001c0031t0007	a0001c0004t0002g0208 a0001c0005t0065g0173 a0001c0006t0001g0007 others(3): Show a0001c0004t0002g0208 a0001c0005t0065g0173 a0001c0006t0001g0007 a0001c0006t0001g0099 a0001c0006t0001g0129 a0001c0031t0007g0160	6	247	0.0243	-34	c.163 others(49): Show c.163-748_163-715delCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A2_chr1_16980958_17016928	16985773	TCTGAAAA others(27): Show TCTGAAAAACCAGGGGGTTCCAGGGGGTTGTCAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	364	0.0027	-34	c.41 others(43): Show c.414_*447delCCTGACAACCCCCTGGAACCCCCTGGTTTTTCAG	ATP13A2	ENSG00000159363.19	transcript	ENST00000326735.13	protein_coding		184		chr1	TogoVar
ATP1B1_chr1_169101690_169137719	169118282	GAGTGTTG others(27): Show GAGTGTTGGTAAACATCCAGATTGGCTGTAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	410	0.0024	-34	c.227 others(51): Show c.227-6598_227-6565delGTTGGTAAACATCCAGATTGGCTGTAGA GACAGT	ATP1B1	ENSG00000143153.14	transcript	ENST00000367815.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP5MC2_chr12_53660170_53681083	53667952	CACACATA others(27): Show CACACATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(138): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03834.hp2 HG03927.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(62): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0184	141	367	0.3842	-34	c.311 others(51): Show c.311+1162_311+1195delATATATATATATATATATATATATATAT ATGTGT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784219	TATATATA others(27): Show TATATATATATATATACGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	374	0.0027	-34	c.-18 others(51): Show c.-18+1905_-18+1938delGTATATATATATATATACGTATATATAT ATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784233	TACGTATA others(27): Show TACGTATATATATATATATACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04115.hp1 HG03710.hp1 HG04115.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0012 a0003c0004t0011 a0001c0001t0012 a0003c0004t0011	a0001c0001t0012g0370 a0003c0004t0011g0371 a0001c0001t0012g0370 a0003c0004t0011g0371	2	373	0.0054	-34	c.-18 others(51): Show c.-18+1891_-18+1924delGTATATATATATATGTATATATATATAT ATACGT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145221	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01981.hp1 HG02273.hp1 others(13): Show HG01934.hp2 HG01981.hp1 HG02273.hp1 HG02486.hp2 HG02965.hp1 HG03130.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 NA19000.hp2 NA19010.hp1 NA19011.hp2 NA19067.hp1 NA19072.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0143 a0001c0001t0001g0211 a0001c0001t0001g0215 others(13): Show a0001c0001t0001g0143 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0271 a0001c0001t0001g0290 a0001c0001t0001g0340 a0001c0001t0003g0212 a0001c0001t0003g0220 a0001c0001t0003g0227 a0001c0001t0003g0264 a0001c0001t0003g0270 a0002c0002t0001g0014 a0002c0002t0001g0295	16	358	0.0447	-34	c.639 others(51): Show c.639+2283_639+2316delGAGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1E1_chr22_17587136_17633749	17607559	TTTAGGAT others(27): Show TTTAGGATCTCTGGAATAGGCCTGTCTTCTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0309 a0001c0001t0003g0310	2	368	0.0054	-34	c.276 others(51): Show c.276+5219_276+5252delGAAAGAGAAGACAGGCCTATTCCAGAGA TCCTAA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	4/8			chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546451	CATATATA others(27): Show CATATATATATATATATATATATGTGTATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01255.hp2 HG01257.hp1 others(17): Show HG00738.hp1 HG01255.hp2 HG01257.hp1 HG01978.hp1 HG01978.hp2 HG02572.hp1 HG02809.hp2 HG02970.hp1 HG03195.hp1 HG03669.hp1 NA18943.hp2 NA18948.hp1 NA18952.hp1 NA18987.hp2 NA18991.hp1 NA19003.hp2 NA19011.hp1 NA19077.hp2 NA19091.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0002c0004t0005	a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0071 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0203 a0001c0001t0002g0008 a0001c0001t0002g0235 a0001c0001t0003g0036 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0140 a0001c0001t0003g0145 a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0061 a0001c0001t0006g0064 a0002c0004t0005g0136	20	297	0.0673	-34	c.-46 others(45): Show c.-4642_-4609delATATATATACACATATATATATATATATATATAT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3875		chr2	TogoVar
ATP6V1H_chr8_53710543_53848245	53755685	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG01257.hp2 others(12): Show HG00621.hp1 HG00642.hp2 HG01257.hp2 HG01952.hp2 HG01978.hp2 HG02040.hp2 HG02559.hp1 HG02818.hp2 HG04115.hp1 HG04199.hp1 NA18967.hp2 NA18973.hp2 NA19000.hp1 NA19003.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0088 a0001c0001t0002g0094 others(12): Show a0001c0001t0002g0013 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161	15	196	0.0765	-34	c.127 others(51): Show c.1277+836_1277+869delATATATATATATATATATATATATATAT ATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755712	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03239.hp1 NA18959.hp1 HG02155.hp2 HG03239.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0093 a0001c0001t0002g0147 a0001c0001t0002g0148	3	268	0.0112	-34	c.127 others(51): Show c.1277+809_1277+842delAATATATATATATATATATATATATATA TATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP8A1_chr4_42403373_42662105	42636124	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00558.hp1 others(54): Show HG00099.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01516.hp2 HG01943.hp1 HG01952.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02698.hp1 HG02809.hp2 HG03490.hp2 HG03491.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18943.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18962.hp1 NA18968.hp2 NA18970.hp1 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18989.hp1 NA18990.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19064.hp2 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0025 a0001c0001t0030 a0001c0001t0033 a0001c0001t0038 a0001c0002t0002 a0001c0002t0007 a0001c0002t0020 a0001c0003t0008 a0003c0006t0001 a0003c0006t0005 a0006c0011t0005	a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 others(54): Show a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0090 a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0002g0061 a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0003g0209 a0001c0001t0003g0216 a0001c0001t0005g0254 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0007g0146 a0001c0001t0007g0148 a0001c0001t0008g0091 a0001c0001t0008g0093 a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0009g0217 a0001c0001t0009g0224 a0001c0001t0009g0275 a0001c0001t0011g0009 a0001c0001t0018g0154 a0001c0001t0025g0010 a0001c0001t0030g0126 a0001c0001t0033g0304 a0001c0001t0038g0310 a0001c0002t0002g0155 a0001c0002t0007g0092 a0001c0002t0007g0094 a0001c0002t0020g0111 a0001c0003t0008g0144 a0003c0006t0001g0151 a0003c0006t0001g0153 a0003c0006t0005g0219 a0003c0006t0005g0220 a0003c0006t0005g0228 a0006c0011t0005g0229	57	308	0.1851	-34	c.50- others(49): Show c.50-9049_50-9016delCGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25829668	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp1 HG03453.hp1 HG02647.hp2 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0015 a0001c0001 a0001c0014 a0001c0015	a0001c0001t0048 a0001c0014t0034 a0001c0015t0008 a0001c0001t0048 a0001c0014t0034 a0001c0015t0008	a0001c0001t0048g0122 a0001c0014t0034g0064 a0001c0015t0008g0015 a0001c0001t0048g0122 a0001c0014t0034g0064 a0001c0015t0008g0015	3	13	0.2308	-34	c.275 others(53): Show c.2754+1496_2754+1529delATATATATATATATATATATATATAT ATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57731308	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18612.hp1 NA18906.hp2 HG03130.hp2 NA18612.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0009 a0001c0001t0001g0112 a0001c0001t0009g0253 a0001c0001t0001g0009 a0001c0001t0001g0112 a0001c0001t0009g0253	3	145	0.0207	-34	c.181 others(49): Show c.181+285_181+318delATATATATATATATATATATATATATATAT ATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50072960	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03704.hp2 HG04228.hp1 others(4): Show HG00609.hp1 HG03704.hp2 HG04228.hp1 NA18953.hp1 NA18973.hp1 NA18995.hp1 NA19083.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0006 a0002c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0006 a0002c0002t0001 a0003c0003t0003	a0001c0001t0003g0211 a0001c0001t0006g0155 a0002c0002t0001g0189 others(4): Show a0001c0001t0003g0211 a0001c0001t0006g0155 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0193 a0002c0002t0001g0209 a0003c0003t0003g0235	7	242	0.0289	-34	c.87+ others(49): Show c.87+1133_87+1166delTATATATATATATAGAGAGAGAGAGAGAGA GAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072962	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03490.hp2 NA19065.hp1 HG02735.hp2 HG03490.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0206 a0001c0001t0002g0023 a0002c0002t0003g0194 a0001c0001t0001g0206 a0001c0001t0002g0023 a0002c0002t0003g0194	3	239	0.0126	-34	c.87+ others(49): Show c.87+1131_87+1164delTATATATATATATATAGAGAGAGAGAGAGA GAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072964	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0079 a0001c0001t0007g0079	1	239	0.0042	-34	c.87+ others(49): Show c.87+1129_87+1162delTATATATATATATATATAGAGAGAGAGAGA GAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072966	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01081.hp1 others(2): Show HG00280.hp2 HG00735.hp2 HG01081.hp1 HG01515.hp2 HG01517.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0007 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0003 a0003c0003t0001	a0001c0001t0001g0212 a0001c0001t0007g0022 a0002c0002t0003g0205 others(2): Show a0001c0001t0001g0212 a0001c0001t0007g0022 a0002c0002t0003g0205 a0003c0003t0001g0196 a0003c0003t0001g0197	5	244	0.0205	-34	c.87+ others(49): Show c.87+1127_87+1160delTATATATATATATATATATAGAGAGAGAGA GAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072968	CTCTCTCT others(27): Show CTCTCTCTCTCTCTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02165.hp1 HG00099.hp1 HG02165.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0219 a0003c0003t0001g0191 a0001c0001t0001g0219 a0003c0003t0001g0191	2	240	0.0083	-34	c.87+ others(49): Show c.87+1125_87+1158delTATATATATATATATATATATAGAGAGAGA GAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATRNL1_chr10_115088365_115953999	115612812	TTTTGACA others(27): Show TTTTGACACAAATGACTCCATTTGTGGAATCCAAG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0058 a0001c0003t0003g0058	1	126	0.0079	-34	c.379 others(55): Show c.3795+63299_3795+63332delGTGGAATCCAAGTTTGACACAAAT GACTCCATTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01358.hp2 HG01123.hp1 HG01358.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0017 a0001c0002 a0003c0017	a0001c0002t0021 a0003c0017t0021 a0001c0002t0021 a0003c0017t0021	a0001c0002t0021g0004 a0003c0017t0021g0197 a0001c0002t0021g0004 a0003c0017t0021g0197	2	7	0.2857	-34	c.386 others(53): Show c.3864-3380_3864-3347delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATXN2L_chr16_28817999_28842232	28818635	ACAAAAAA others(27): Show ACAAAAAACAAAACAAAACAAAAAAACACCCTGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0094 a0001c0022t0001g0094	1	380	0.0026	-34	c.-46 others(45): Show c.-4624_-4591delCAAAAAACAAAACAAAACAAAAAAACACCCTGGC	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding		4363		chr16	TogoVar
ATXN7L1_chr7_105599772_105881599	105619512	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	249	0.0040	-34	c.151 others(51): Show c.1517+654_1517+687delAAAAAAAAAAAAAAAATATATATATATA TATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619514	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0211 a0001c0001t0004g0211	1	250	0.0040	-34	c.151 others(51): Show c.1517+652_1517+685delAAAAAAAAAAAAAAAAAATATATATATA TATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619516	ATATATAT others(27): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	224	0.0045	-34	c.151 others(51): Show c.1517+650_1517+683delAAAAAAAAAAAAAAAAAAAATATATATA TATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105716665	GCACACAC others(27): Show GCACACACACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00741.hp1 others(78): Show HG00323.hp2 HG00642.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18954.hp2 NA18962.hp2 NA18971.hp2 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0034 a0001c0001t0037 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0005t0001 a0001c0007t0033 a0002c0002t0016 a0002c0002t0017 a0002c0002t0026	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 others(78): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0147 a0001c0001t0001g0170 a0001c0001t0001g0217 a0001c0001t0001g0238 a0001c0001t0002g0005 a0001c0001t0002g0026 a0001c0001t0002g0078 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0145 a0001c0001t0002g0162 a0001c0001t0002g0201 a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0003g0021 a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0056 a0001c0001t0003g0142 a0001c0001t0003g0152 a0001c0001t0003g0161 a0001c0001t0003g0179 a0001c0001t0004g0023 a0001c0001t0004g0125 a0001c0001t0004g0128 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0203 a0001c0001t0005g0184 a0001c0001t0005g0233 a0001c0001t0005g0237 a0001c0001t0006g0014 a0001c0001t0006g0027 a0001c0001t0007g0067 a0001c0001t0007g0117 a0001c0001t0007g0167 a0001c0001t0008g0046 a0001c0001t0008g0131 a0001c0001t0009g0020 a0001c0001t0009g0055 a0001c0001t0009g0146 a0001c0001t0010g0228 a0001c0001t0011g0099 a0001c0001t0011g0143 a0001c0001t0011g0156 a0001c0001t0011g0163 a0001c0001t0013g0191 a0001c0001t0014g0136 a0001c0001t0015g0192 a0001c0001t0015g0213 a0001c0001t0019g0183 a0001c0001t0019g0247 a0001c0001t0020g0250 a0001c0001t0025g0072 a0001c0001t0028g0007 a0001c0001t0034g0180 a0001c0001t0037g0195 a0001c0001t0042g0121 a0001c0001t0045g0154 a0001c0001t0046g0035 a0001c0001t0047g0133 a0001c0001t0048g0031 a0001c0001t0049g0087 a0001c0005t0001g0209 a0001c0007t0033g0157 a0002c0002t0016g0066 a0002c0002t0016g0200 a0002c0002t0017g0149 a0002c0002t0017g0221 a0002c0002t0017g0226 a0002c0002t0026g0208	81	96	0.8438	-34	c.356 others(53): Show c.356-51411_356-51378delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AVL9_chr7_32490489_32593726	32579471	ATTATATT others(27): Show ATTATATTATATATAATATATTACATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(155): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0011 others(1): Show a0001c0001 a0001c0006 a0001c0011 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(55): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0081 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0001c0001t0097 a0001c0001t0101 a0001c0001t0102 a0001c0001t0104 a0001c0001t0105 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0115 a0001c0001t0116 a0001c0006t0003 a0001c0006t0013 a0001c0011t0001 a0003c0010t0007 a0003c0010t0016	a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 others(155): Show a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0220 a0001c0001t0003g0226 a0001c0001t0003g0236 a0001c0001t0007g0199 a0001c0001t0007g0202 a0001c0001t0007g0230 a0001c0001t0007g0250 a0001c0001t0007g0254 a0001c0001t0007g0259 a0001c0001t0007g0274 a0001c0001t0008g0162 a0001c0001t0008g0246 a0001c0001t0008g0257 a0001c0001t0008g0263 a0001c0001t0008g0273 a0001c0001t0008g0276 a0001c0001t0008g0278 a0001c0001t0008g0286 a0001c0001t0008g0295 a0001c0001t0010g0244 a0001c0001t0010g0266 a0001c0001t0010g0268 a0001c0001t0010g0270 a0001c0001t0010g0271 a0001c0001t0010g0284 a0001c0001t0010g0324 a0001c0001t0011g0256 a0001c0001t0011g0261 a0001c0001t0011g0267 a0001c0001t0011g0272 a0001c0001t0011g0303 a0001c0001t0013g0011 a0001c0001t0013g0018 a0001c0001t0013g0036 a0001c0001t0013g0111 a0001c0001t0016g0008 a0001c0001t0016g0010 a0001c0001t0016g0188 a0001c0001t0017g0012 a0001c0001t0017g0020 a0001c0001t0017g0031 a0001c0001t0017g0034 a0001c0001t0017g0035 a0001c0001t0019g0198 a0001c0001t0019g0201 a0001c0001t0019g0210 a0001c0001t0019g0234 a0001c0001t0020g0045 a0001c0001t0020g0046 a0001c0001t0020g0047 a0001c0001t0020g0048 a0001c0001t0026g0282 a0001c0001t0026g0283 a0001c0001t0026g0298 a0001c0001t0028g0249 a0001c0001t0028g0265 a0001c0001t0028g0277 a0001c0001t0029g0006 a0001c0001t0029g0007 a0001c0001t0029g0009 a0001c0001t0030g0203 a0001c0001t0030g0209 a0001c0001t0030g0221 a0001c0001t0035g0280 a0001c0001t0035g0288 a0001c0001t0036g0251 a0001c0001t0036g0262 a0001c0001t0037g0004 a0001c0001t0037g0281 a0001c0001t0040g0253 a0001c0001t0040g0269 a0001c0001t0042g0195 a0001c0001t0042g0222 a0001c0001t0043g0033 a0001c0001t0043g0038 a0001c0001t0044g0022 a0001c0001t0044g0233 a0001c0001t0045g0181 a0001c0001t0045g0225 a0001c0001t0046g0189 a0001c0001t0046g0216 a0001c0001t0047g0182 a0001c0001t0067g0264 a0001c0001t0068g0255 a0001c0001t0069g0306 a0001c0001t0070g0231 a0001c0001t0071g0252 a0001c0001t0072g0258 a0001c0001t0073g0287 a0001c0001t0074g0297 a0001c0001t0075g0289 a0001c0001t0076g0296 a0001c0001t0081g0004 a0001c0001t0085g0245 a0001c0001t0086g0174 a0001c0001t0087g0285 a0001c0001t0089g0260 a0001c0001t0097g0186 a0001c0001t0101g0017 a0001c0001t0102g0238 a0001c0001t0104g0242 a0001c0001t0105g0237 a0001c0001t0107g0005 a0001c0001t0109g0190 a0001c0001t0110g0024 a0001c0001t0111g0052 a0001c0001t0112g0235 a0001c0001t0113g0229 a0001c0001t0115g0243 a0001c0001t0116g0027 a0001c0006t0003g0013 a0001c0006t0003g0042 a0001c0006t0003g0043 a0001c0006t0003g0044 a0001c0006t0013g0041 a0001c0006t0013g0053 a0001c0011t0001g0039 a0003c0010t0007g0191 a0003c0010t0016g0213	158	308	0.5130	-34	c.168 others(51): Show c.1689-746_1689-713delTATATTATATATAATATATTACATATTA TATATT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579490	ATTACATA others(27): Show ATTACATATTATATATTATATATTATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0032 a0001c0009t0032	a0001c0009t0032g0309 a0001c0009t0032g0309	1	328	0.0030	-34	c.168 others(51): Show c.1689-727_1689-694delTACATATTATATATTATATATTATATTA TATATT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03453.hp1 HG01261.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0014 a0002c0002t0002g0001 a0001c0001t0001g0014 a0002c0002t0002g0001	2	172	0.0116	-34	c.287 others(49): Show c.287+705_287+738delACACACACACACACACACACACACACACAC ACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
B3GNT6_chr11_77029398_77046973	77032674	TATATACA others(27): Show TATATACACATACATACATACATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0004 a0002c0003t0004g0004	1	425	0.0024	-34	c.-18 others(45): Show c.-1804_-1771delATATACACATACATACATACATATATATATATAC	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		1723		chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82958796	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTATACTGTGTGGGGGTGTATG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03017.hp1 NA18747.hp1 others(1): Show HG01496.hp2 HG03017.hp1 NA18747.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0001c0011	a0001c0001t0002 a0001c0006t0006 a0001c0007t0004 others(1): Show a0001c0001t0002 a0001c0006t0006 a0001c0007t0004 a0001c0011t0030	a0001c0001t0002g0157 a0001c0006t0006g0007 a0001c0007t0004g0245 others(1): Show a0001c0001t0002g0157 a0001c0006t0006g0007 a0001c0007t0004g0245 a0001c0011t0030g0144	4	259	0.0154	-34	c.681 others(51): Show c.681-1336_681-1303delCATACACCCCCACACAGTATACACACAC ACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar

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