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
MKNK2_chr19_2032471_2056244	2047868	CACCTGCA others(34): Show CACCTGCATTCCTCCGCCCATGTCCCGCAGCTGCCCGGCACA	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0167 a0001c0001t0025g0167	1	418	0.0024	-41	c.52- others(56): Show c.52-1218_52-1178delTGTGCCGGGCAGCTGCGGGACATGGGCGGA GGAATGCAGGT	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding	2/13			chr19	TogoVar
MLXIPL_chr7_73588202_73629522	73588943	TTATAAAT others(34): Show TTATAAATACATTTATAATATAAATATAAAATACATTTATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG01884.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0145 a0001c0001t0001g0031 a0001c0001t0001g0145	2	276	0.0073	-41	c.48 others(52): Show c.4881_*4921delTTATAAATGTATTTTATATTTATATTATAAATGT ATTTATA	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding		4258		chr7	TogoVar
MMP17_chr12_131823393_131856771	131838747	TGTGTGGC others(34): Show TGTGTGGCCAGGGTGAGGAGCGGGGCCTCCGTGGAGGTGGGC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04228.hp2 HG04228.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0269 a0006c0008t0002g0269	1	398	0.0025	-41	c.422 others(53): Show c.422+8_422+48delTGTGGCCAGGGTGAGGAGCGGGGCCTCCGTGGA GGTGGGCG	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
MPP7_chr10_28045993_28308064	28129568	ACAGAGTG others(34): Show ACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAATTTACT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02895.hp1 HG01884.hp2 HG02451.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0006 a0001c0001t0010g0007 a0001c0001t0010g0005 a0001c0001t0010g0006 a0001c0001t0010g0007	3	300	0.0100	-41	c.447 others(58): Show c.447+1951_447+1991delAGTAAATTTTTTTTTTTTTTTTGAGACG GAGTCTCACTCTG	MPP7	ENSG00000150054.19	transcript	ENST00000683449.1	protein_coding	6/16			chr10	TogoVar
MRAP2_chr6_84028772_84095881	84037144	TTTACAAA others(34): Show TTTACAAACCTTGAGCTAGACACAGAGTGTTGATTGGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG03130.hp1 others(1): Show HG02630.hp2 HG02723.hp1 HG03130.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0007 a0001c0002t0003g0220 a0001c0002t0003g0221	4	272	0.0147	-41	c.-8+ others(56): Show c.-8+3290_-8+3330delTTGATTGGTGTGATTACAAACCTTGAGCTA GACACAGAGTG	MRAP2	ENSG00000135324.6	transcript	ENST00000257776.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
MROH2A_chr2_233773330_233838418	233787778	TATATATA others(34): Show TATATATATCATATATAATATATATTATATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0158 a0004c0010t0001g0158	1	378	0.0027	-41	c.277 others(58): Show c.277-1710_277-1670delCATATATAATATATATTATATATATTAT ATATAATATATAT	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787787	CATATATA others(34): Show CATATATAATATATATTATATATATTATATATAATATATATT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0038 a0003c0038	a0003c0038t0001 a0003c0038t0001	a0003c0038t0001g0354 a0003c0038t0001g0354	1	378	0.0027	-41	c.277 others(58): Show c.277-1702_277-1662delATATATATTATATATATTATATATAATA TATATTATATATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL20_chr1_1396909_1412293	1412042	ATCTAGGT others(34): Show ATCTAGGTCCCAGGTCCCAGGTCCGTCTAGGTCCCAGGTCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01109.hp2 HG01123.hp1 others(40): Show HG00323.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01975.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 NA18906.hp1 NA18944.hp1 NA18961.hp2 NA18966.hp2 NA19007.hp1 NA19043.hp1 NA19057.hp1 NA19060.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0004g0015	43	354	0.1215	-41	c.-48 others(52): Show c.-4866_-4826delCGGACCTGGGACCTAGACGGACCTGGGACCTGGG ACCTAGA	MRPL20	ENSG00000242485.6	transcript	ENST00000344843.12	protein_coding		4750		chr1	TogoVar
MRPL21_chr11_68886278_68908832	68892555	TGGGGTCA others(34): Show TGGGGTCATGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTG	T T	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	395	0.0025	-41	c.553 others(56): Show c.553+294_553+334delCACCTCGCTCCCCTTCTCCTCCACCCTCCG CGCATGACCCC	MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	6/6			chr11	TogoVar
MRPS30_chr5_44803947_44820514	44819791	CCACCTCT others(34): Show CCACCTCTTGGATTCAAGCAGTTCTCCTGCCTCAGCCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	-41	c.45 others(52): Show c.4590_*4630delCACCTCTTGGATTCAAGCAGTTCTCCTGCCTCAG CCTCCCG	MRPS30	ENSG00000112996.11	transcript	ENST00000507110.6	protein_coding		4278		chr5	TogoVar
MSH3_chr5_80649652_80881815	80691997	ATAGATAA others(34): Show ATAGATAAACATGTATATGTTTAGATAGATAAACAGTATGTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01243.hp2 others(13): Show HG00280.hp1 HG00741.hp2 HG01243.hp2 HG01496.hp1 HG01515.hp2 HG02055.hp1 HG02630.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 NA18949.hp2 NA19030.hp1 NA19083.hp1	a0001 a0002 a0013 others(3): Show a0001 a0002 a0013 a0021 a0032 a0038	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0013c0011 a0021c0015 a0032c0031 a0038c0026	a0001c0001t0005 a0001c0002t0001 a0002c0003t0003 others(5): Show a0001c0001t0005 a0001c0002t0001 a0002c0003t0003 a0002c0003t0012 a0013c0011t0005 a0021c0015t0005 a0032c0031t0005 a0038c0026t0005	a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 others(13): Show a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0002t0001g0045 a0001c0002t0001g0143 a0002c0003t0003g0184 a0002c0003t0003g0199 a0002c0003t0003g0209 a0002c0003t0012g0207 a0013c0011t0005g0013 a0013c0011t0005g0014 a0013c0011t0005g0029 a0021c0015t0005g0012 a0021c0015t0005g0030 a0032c0031t0005g0022 a0038c0026t0005g0011	16	362	0.0442	-41	c.134 others(62): Show c.1340+12911_1340+12951delAACATGTATATGTTTAGATAGATA AACAGTATGTTTAGATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSR1_chr8_16102881_16197651	16139771	AAAAATAT others(34): Show AAAAATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	330	0.0030	-41	c.103 others(60): Show c.1033+3746_1033+3786delATATATATATATATATATATATATAT ATATATATATATTTT	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	8/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16139773	AAATATAT others(34): Show AAATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18950.hp1 NA18956.hp1 others(5): Show NA18612.hp1 NA18950.hp1 NA18956.hp1 NA18960.hp2 NA18983.hp1 NA18990.hp2 NA19010.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0003 a0002c0002t0001	a0001c0001t0001g0112 a0001c0001t0001g0225 a0001c0001t0003g0226 others(5): Show a0001c0001t0001g0112 a0001c0001t0001g0225 a0001c0001t0003g0226 a0001c0001t0004g0100 a0001c0001t0004g0303 a0001c0003t0003g0223 a0001c0003t0003g0227 a0002c0002t0001g0090	8	330	0.0242	-41	c.103 others(60): Show c.1033+3744_1033+3784delATATATATATATATATATATATATAT ATATATATATATATT	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	8/9			chr8	TogoVar
MT4_chr16_56560073_56573957	56566778	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02080.hp1 HG02735.hp1 others(2): Show HG01884.hp2 HG02080.hp1 HG02735.hp1 NA18975.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 others(2): Show a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0392 a0003c0003t0001g0195	5	428	0.0117	-41	c.32- others(54): Show c.32-933_32-893delGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTDH_chr8_97639184_97735260	97682244	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18990.hp2 HG02056.hp1 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0077 a0001c0002t0003 a0001c0002t0077	a0001c0002t0003g0209 a0001c0002t0077g0221 a0001c0002t0003g0209 a0001c0002t0077g0221	2	370	0.0054	-41	c.484 others(58): Show c.484-4422_484-4382delATATATATATATATATATATATATATAT ATATATATTTTTT	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97682256	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG00733.hp1 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0007 a0001c0001t0024g0009 a0001c0001t0024g0007 a0001c0001t0024g0009	2	370	0.0054	-41	c.484 others(58): Show c.484-4410_484-4370delATATATATATATATATATATATATTTTT TTTTTTTTTTTTT	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTHFD1_chr14_64383353_64465025	64397123	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	342	0.0029	-41	c.42- others(56): Show c.42-3668_42-3628delAAAAAAAAAAAAAAATATATATATATATAT ATATATATATA	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFD1_chr14_64383353_64465025	64397150	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02965.hp1 HG03041.hp1 others(1): Show HG01074.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 others(1): Show a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0115	4	342	0.0117	-41	c.42- others(56): Show c.42-3641_42-3601delTATATATATATATATATATATATATATATA TATATATATAA	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFS_chr15_79838547_79902014	79840192	TATATAAT others(34): Show TATATAATATATTATATATAATATATATATATAATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	394	0.0025	-41	c.49 others(52): Show c.4977_*5017delTATATATATTATATATATATATTATATATAATAT ATTATAT	MTHFS	ENSG00000136371.11	transcript	ENST00000258874.4	protein_coding		3354		chr15	TogoVar
MTUS2_chr13_28815339_29510947	29492119	TGTGTGTA others(34): Show TGTGTGTATGTGATGTGTGTGGTAGGTGTGTATGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp2 HG02055.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0024 a0002c0002t0003 a0002c0002t0024	a0002c0002t0003g0035 a0002c0002t0024g0059 a0002c0002t0003g0035 a0002c0002t0024g0059	2	92	0.0217	-41	c.350 others(58): Show c.3506-467_3506-427delTGGTAGGTGTGTATGTGTGTGTGGTGTG TATGTGATGTGTG	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC12_chr7_100964565_101023936	101018092	CTCCCTTC others(34): Show CTCCCTTCCCCCCTGGATTCCCTCCCTCCCCCTGGGACCCCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03098.hp2 NA19088.hp1 others(1): Show HG02723.hp2 HG03098.hp2 NA19088.hp1 NA20129.hp2	a0035 a0264 a0265 others(1): Show a0035 a0264 a0265 a0266	a0035c0020 a0264c0276 a0265c0278 others(1): Show a0035c0020 a0264c0276 a0265c0278 a0266c0277	a0035c0020t0001 a0264c0276t0001 a0265c0278t0001 others(1): Show a0035c0020t0001 a0264c0276t0001 a0265c0278t0001 a0266c0277t0001	a0035c0020t0001g0122 a0264c0276t0001g0096 a0265c0278t0001g0097 others(1): Show a0035c0020t0001g0122 a0264c0276t0001g0096 a0265c0278t0001g0097 a0266c0277t0001g0107	4	342	0.0117	-41	c.159 others(60): Show c.15966+434_15967-458delTTCCCCCCTGGATTCCCTCCCTCCCC CTGGGACCCCTTCCC	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC17_chr7_101015081_101063859	101018092	CTCCCTTC others(34): Show CTCCCTTCCCCCCTGGATTCCCTCCCTCCCCCTGGGACCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03098.hp1 NA20129.hp1 HG02723.hp1 HG03098.hp1 NA20129.hp1	a0023 a0042 a0023 a0042	a0023c0027 a0042c0042 a0023c0027 a0042c0042	a0023c0027t0002 a0042c0042t0001 a0023c0027t0002 a0042c0042t0001	a0023c0027t0002g0043 a0023c0027t0002g0044 a0042c0042t0001g0045 a0023c0027t0002g0043 a0023c0027t0002g0044 a0042c0042t0001g0045	3	366	0.0082	-41	c.-20 others(52): Show c.-2043_-2003delTCCCTTCCCCCCTGGATTCCCTCCCTCCCCCTGG GACCCCT	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding		1988		chr7	TogoVar
MYO10_chr5_16656907_16941288	16891315	AGAGAAAA others(34): Show AGAGAAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp2 others(51): Show HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01255.hp2 HG01256.hp2 HG01361.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02056.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18952.hp2 NA18966.hp2 NA18971.hp2 NA18980.hp1 NA18983.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA20300.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0015 a0022 a0029 a0034	a0001c0001 a0001c0003 a0001c0016 others(13): Show a0001c0001 a0001c0003 a0001c0016 a0002c0002 a0002c0008 a0003c0006 a0003c0007 a0004c0004 a0005c0070 a0006c0009 a0006c0028 a0011c0013 a0015c0020 a0022c0050 a0029c0055 a0034c0063	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0073 a0001c0001t0074 a0001c0003t0005 a0001c0003t0008 a0001c0003t0021 a0001c0003t0022 a0001c0003t0137 a0001c0016t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009 a0002c0002t0053 a0002c0002t0079 a0002c0002t0126 a0002c0002t0133 a0002c0002t0140 a0002c0008t0051 a0002c0008t0068 a0003c0006t0010 a0003c0006t0024 a0003c0006t0105 a0003c0006t0128 a0003c0007t0006 a0003c0007t0029 a0003c0007t0032 a0003c0007t0097 a0003c0007t0106 a0004c0004t0001 a0004c0004t0004 a0004c0004t0024 a0004c0004t0066 a0004c0004t0084 a0005c0070t0005 a0006c0009t0117 a0006c0028t0016 a0011c0013t0007 a0011c0013t0035 a0015c0020t0039 a0022c0050t0033 a0029c0055t0001 a0034c0063t0007	a0001c0001t0001g0071 a0001c0001t0001g0108 a0001c0001t0002g0093 others(51): Show a0001c0001t0001g0071 a0001c0001t0001g0108 a0001c0001t0002g0093 a0001c0001t0003g0030 a0001c0001t0003g0090 a0001c0001t0007g0070 a0001c0001t0008g0146 a0001c0001t0012g0198 a0001c0001t0073g0077 a0001c0001t0074g0089 a0001c0003t0005g0197 a0001c0003t0008g0149 a0001c0003t0021g0079 a0001c0003t0022g0065 a0001c0003t0137g0207 a0001c0016t0001g0091 a0001c0016t0001g0094 a0002c0002t0001g0129 a0002c0002t0002g0161 a0002c0002t0003g0262 a0002c0002t0004g0131 a0002c0002t0007g0196 a0002c0002t0009g0112 a0002c0002t0053g0172 a0002c0002t0079g0173 a0002c0002t0126g0217 a0002c0002t0133g0145 a0002c0002t0140g0095 a0002c0008t0051g0160 a0002c0008t0068g0141 a0003c0006t0010g0051 a0003c0006t0010g0096 a0003c0006t0024g0150 a0003c0006t0105g0144 a0003c0006t0128g0058 a0003c0007t0006g0080 a0003c0007t0029g0059 a0003c0007t0032g0017 a0003c0007t0097g0064 a0003c0007t0106g0153 a0004c0004t0001g0168 a0004c0004t0004g0179 a0004c0004t0024g0152 a0004c0004t0066g0213 a0004c0004t0084g0151 a0005c0070t0005g0110 a0006c0009t0117g0174 a0006c0028t0016g0060 a0011c0013t0007g0078 a0011c0013t0035g0041 a0015c0020t0039g0002 a0022c0050t0033g0147 a0029c0055t0001g0187 a0034c0063t0007g0208	54	272	0.1985	-41	c.22- others(58): Show c.22-13649_22-13609delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTTTCTC	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	1/40			chr5	TogoVar
MYO3B_chr2_170173147_170660167	170437216	TGATTCAC others(34): Show TGATTCACTGGGGGTGGCCAGGTTTCTCCTTACGTGCAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG02886.hp1 others(4): Show HG02615.hp1 HG02809.hp1 HG02886.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03579.hp1	a0001 a0018 a0001 a0018	a0001c0004 a0001c0007 a0001c0014 others(2): Show a0001c0004 a0001c0007 a0001c0014 a0001c0067 a0018c0031	a0001c0004t0002 a0001c0007t0003 a0001c0007t0007 others(4): Show a0001c0004t0002 a0001c0007t0003 a0001c0007t0007 a0001c0014t0002 a0001c0014t0018 a0001c0067t0004 a0018c0031t0008	a0001c0004t0002g0149 a0001c0007t0003g0124 a0001c0007t0007g0133 others(4): Show a0001c0004t0002g0149 a0001c0007t0003g0124 a0001c0007t0007g0133 a0001c0014t0002g0014 a0001c0014t0018g0001 a0001c0067t0004g0128 a0018c0031t0008g0157	7	174	0.0402	-41	c.265 others(60): Show c.2651-6746_2651-6706delCACTGGGGGTGGCCAGGTTTCTCCTT ACGTGCAGAGAGATT	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO6_chr6_75744239_75924537	75768327	ATTTTATT others(34): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0342 a0001c0001t0123g0342	1	358	0.0028	-41	c.-48 others(60): Show c.-48+18908_-48+18948delTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTT	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYOM2_chr8_2040046_2150456	2061174	GGTTTAGT others(34): Show GGTTTAGTGAGGGAGGGGGTCTCTGTCCCCATCCAGCCTGGT	G G	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0367 a0007c0010t0001g0367	1	403	0.0025	-41	c.653 others(58): Show c.653+1946_653+1986delGGTCTCTGTCCCCATCCAGCCTGGTGTT TAGTGAGGGAGGG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	6/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
N4BP2_chr4_40051850_40163252	40147486	CGGCCGGG others(34): Show CGGCCGGGCAGAGGCGCCCCCCACCTCCCGGACGGGGCGGCT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0059 a0019c0022t0059	a0019c0022t0059g0255 a0019c0022t0059g0255	1	366	0.0027	-41	c.514 others(60): Show c.5143+2715_5143+2755delGGACGGGGCGGCTGGCCGGGCAGAGG CGCCCCCCACCTCCC	N4BP2	ENSG00000078177.15	transcript	ENST00000261435.11	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAXD_chr13_110610545_110644996	110632815	TTCACAAA others(34): Show TTCACAAACCCTGAGCTAAACACAGGGTGCTGATTGGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00738.hp2 others(56): Show HG00609.hp1 HG00621.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp2 HG02523.hp2 HG02602.hp1 HG02735.hp1 HG02735.hp2 HG03017.hp2 HG04204.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18957.hp2 NA18959.hp1 NA18969.hp2 NA18975.hp1 NA18977.hp1 NA18984.hp1 NA18988.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19070.hp2 NA19085.hp2 NA19091.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0006 a0001c0001t0023 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0023 a0001c0001t0024 a0001c0010t0006	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0013 others(26): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0006g0003 a0001c0001t0006g0008 a0001c0001t0006g0033 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0109 a0001c0001t0023g0003 a0001c0001t0024g0003 a0001c0010t0006g0008	59	392	0.1505	-41	c.442 others(58): Show c.442-1712_442-1672delAACACAGGGTGCTGATTGGTGCACTCAC AAACCCTGAGCTA	NAXD	ENSG00000213995.12	transcript	ENST00000680254.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBPF4_chr1_108217464_108249076	108244915	TATATATA others(34): Show TATATATATATATATATATATATATATATATATACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0050 a0002c0005t0002g0050	1	134	0.0075	-41	c.-10 others(52): Show c.-1093_-1053delTGTGTGTGTATATATATATATATATATATATATA TATATAT	NBPF4	ENSG00000196427.14	transcript	ENST00000415641.8	protein_coding		840		chr1	TogoVar
NCALD_chr8_101681542_101795969	101779238	TAATCCAG others(34): Show TAATCCAGTTGTGATGGAAAGAAATTCTAGTAGAAGAGCTTA	T T	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	300	0.0033	-41	c.-20 others(60): Show c.-20+11583_-20+11623delTAAGCTCTTCTACTAGAATTTCTTTC CATCACAACTGGATT	NCALD	ENSG00000104490.18	transcript	ENST00000220931.11	protein_coding	1/3			chr8	TogoVar
NCAPD3_chr11_134145113_134228967	134188220	CACCAATC others(34): Show CACCAATCAGCACTCCGTGTCTAGCTAAAGGATTGTAAATGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02922.hp1 others(1): Show HG01109.hp1 HG02055.hp1 HG02922.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0007g0293 others(1): Show a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0007g0293 a0001c0001t0007g0301	4	370	0.0108	-41	c.204 others(60): Show c.2046-2735_2046-2695delACATTTACAATCCTTTAGCTAGACAC GGAGTGCTGATTGGT	NCAPD3	ENSG00000151503.14	transcript	ENST00000534548.7	protein_coding	16/34			chr11	TogoVar
NCAPH2_chr22_50503224_50529780	50504233	CCCCCCGG others(34): Show CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	384	0.0026	-41	c.-41 others(52): Show c.-4104_-4064delCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACA	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3990		chr22	TogoVar
NCK1_chr3_136857208_136956606	136867046	GCTTTTCT others(34): Show GCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	232	0.0043	-41	c.-19 others(58): Show c.-19+4698_-19+4738delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	NCK1	ENSG00000158092.7	transcript	ENST00000481752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCKAP5_chr2_132666788_133573463	133526234	AAGGAGGG others(34): Show AAGGAGGGAGGGAAGGAGGGAGGGAGGGAAGGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0001 a0017c0016t0001	a0017c0016t0001g0052 a0017c0016t0001g0052	1	70	0.0143	-41	c.-61 others(58): Show c.-61-8688_-61-8648delCTCCCTCCCTCCTTCCCTCCCTCCCTCC TTCCCTCCCTCCT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	2/19			chr2	TogoVar
NCOA6_chr20_34709774_34830651	34817171	ATGGGTAC others(34): Show ATGGGTACTACGGAACTGATATTCAACAGATTCAATATCAGT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18612.hp1 NA18998.hp1 HG01258.hp1 NA18612.hp1 NA18998.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0011c0017t0001 a0001c0001t0001 a0011c0017t0001	a0001c0001t0001g0106 a0001c0001t0001g0117 a0011c0017t0001g0157 a0001c0001t0001g0106 a0001c0001t0001g0117 a0011c0017t0001g0157	3	290	0.0103	-41	c.-16 others(60): Show c.-164+8260_-164+8300delACTGATATTGAATCTGTTGAATATCA GTTCCGTAGTACCCA	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	1/14			chr20	TogoVar
NCSTN_chr1_160338383_160363949	160356793	TTTCCCTT others(34): Show TTTCCCTTGGGAAAGTTGGAGGTTCTTCTAGACCTAGTTAGA	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	448	0.0022	-41	c.179 others(56): Show c.1794+40_1794+80delTTCCCTTGGGAAAGTTGGAGGTTCTTCTAG ACCTAGTTAGA	NCSTN	ENSG00000162736.18	transcript	ENST00000294785.10	protein_coding	15/16			chr1	TogoVar
NDUFB7_chr19_14561078_14577066	14572804	ATACAGTT others(34): Show ATACAGTTATTATTATATTATTATTTTTTGAGATAGGGTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	402	0.0025	-41	c.-84 others(50): Show c.-845_-805delGAGACCCTATCTCAAAAAATAATAATATAATAATAA CTGTA	NDUFB7	ENSG00000099795.7	transcript	ENST00000215565.3	protein_coding		739		chr19	TogoVar
NEDD4L_chr18_58039226_58406539	58170499	GCCTCATC others(34): Show GCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0103 a0001c0001t0027g0103	1	118	0.0085	-41	c.122 others(58): Show c.122+4679_122+4719delACCTCATCACCCCAGCCCAAGAGGACAG AACACTGCTGCCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58170643	AGGACAGA others(34): Show AGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0114 a0001c0001t0012g0114	1	118	0.0085	-41	c.122 others(58): Show c.122+4864_122+4904delGGGACAGAACACTGCTGCCCGCCTCATC ACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58171012	AGGACAGA others(34): Show AGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02922.hp2 others(5): Show HG02622.hp1 HG02647.hp2 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0019 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031	a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0003g0064 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0003g0064 a0001c0001t0012g0114 a0001c0001t0019g0036 a0001c0001t0027g0103 a0001c0001t0030g0055 a0001c0001t0031g0082	8	118	0.0678	-41	c.122 others(58): Show c.122+5192_122+5232delGGGACAGAACACTGCTGCCCGCCTCATC ACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58171053	GGGACAGA others(34): Show GGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0087 a0001c0001t0018g0087	1	118	0.0085	-41	c.122 others(58): Show c.122+5356_122+5396delAGGACAGAACACTGCTGCCCGCCTCATC ACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58171217	AGGACAGA others(34): Show AGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp1 HG03579.hp2 others(1): Show HG02647.hp2 HG03486.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019	a0001c0001t0001g0107 a0001c0001t0012g0114 a0001c0001t0014g0108 others(1): Show a0001c0001t0001g0107 a0001c0001t0012g0114 a0001c0001t0014g0108 a0001c0001t0019g0036	4	118	0.0339	-41	c.122 others(58): Show c.122+5397_122+5437delGGGACAGAACACTGCTGCCCGCCTCATC ACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58171347	AACACTGC others(34): Show AACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02559.hp1 others(10): Show HG01884.hp1 HG02109.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02895.hp2 HG02922.hp2 HG03486.hp1 HG03579.hp2 NA18612.hp1 NA18962.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0049	a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0002g0044 others(10): Show a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0002g0044 a0001c0001t0003g0011 a0001c0001t0007g0093 a0001c0001t0012g0114 a0001c0001t0014g0108 a0001c0001t0015g0001 a0001c0001t0016g0018 a0001c0001t0019g0036 a0001c0001t0023g0118 a0001c0001t0027g0103 a0001c0001t0049g0008	13	118	0.1102	-41	c.122 others(58): Show c.122+5520_122+5560delGGGACAGGACACTGCTGCCCGCCTCATC ACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NELL1_chr11_20664586_21580686	20724022	GGTGCCAT others(34): Show GGTGCCATGTCCTGAGGCTGCACCGAGAAGCTGGAAGGCAGT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00642.hp1 others(39): Show HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG01169.hp1 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01975.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03486.hp1 HG03540.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18964.hp1 NA18964.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0008	a0001c0001 a0001c0004 a0001c0005 others(10): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0002c0002 a0002c0003 a0002c0009 a0002c0010 a0004c0013 a0005c0012 a0006c0023 a0008c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0006t0001 a0001c0006t0003 a0001c0011t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0006 a0002c0009t0001 a0002c0010t0003 a0004c0013t0001 a0005c0012t0001 a0006c0023t0001 a0008c0021t0001	a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0002g0001 others(39): Show a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0002g0001 a0001c0001t0008g0056 a0001c0004t0001g0038 a0001c0004t0001g0046 a0001c0004t0001g0062 a0001c0004t0001g0085 a0001c0004t0001g0087 a0001c0005t0001g0030 a0001c0005t0002g0026 a0001c0005t0004g0055 a0001c0006t0001g0011 a0001c0006t0003g0020 a0001c0011t0001g0035 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0029 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0003t0001g0009 a0002c0003t0001g0016 a0002c0003t0001g0034 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0086 a0002c0003t0006g0066 a0002c0009t0001g0063 a0002c0009t0001g0069 a0002c0010t0003g0081 a0004c0013t0001g0005 a0005c0012t0001g0057 a0006c0023t0001g0058 a0008c0021t0001g0077	42	88	0.4773	-41	c.184 others(60): Show c.184+45985_184+46025delCGAGAAGCTGGAAGGCAGTGTGCCAT GTCCTGAGGCTGCAC	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20976132	CACATGTA others(34): Show CACATGTACACACATGTATATATATACACACATTATATCTGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01169.hp2 HG01884.hp2 others(11): Show HG00642.hp2 HG01169.hp2 HG01884.hp2 HG02258.hp2 HG02630.hp1 HG02976.hp2 HG03225.hp1 HG03471.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18964.hp2 NA18993.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0004 a0001c0005 others(8): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0002c0002 a0003c0015 a0003c0020 a0004c0013 a0005c0012 a0006c0023 a0009c0018	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(8): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0007 a0002c0002t0001 a0003c0015t0001 a0003c0020t0001 a0004c0013t0001 a0005c0012t0001 a0006c0023t0001 a0009c0018t0001	a0001c0001t0001g0022 a0001c0004t0001g0049 a0001c0004t0001g0080 others(11): Show a0001c0001t0001g0022 a0001c0004t0001g0049 a0001c0004t0001g0080 a0001c0005t0001g0013 a0001c0006t0007g0014 a0002c0002t0001g0010 a0002c0002t0001g0018 a0002c0002t0001g0074 a0003c0015t0001g0008 a0003c0020t0001g0075 a0004c0013t0001g0005 a0005c0012t0001g0057 a0006c0023t0001g0058 a0009c0018t0001g0045	14	88	0.1591	-41	c.130 others(62): Show c.1300+15577_1300+15617delGTACACACATGTATATATATACAC ACATTATATCTGTACAT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21309271	TATATATA others(34): Show TATATATATGTATATATATATATATATATGTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03041.hp1 HG03471.hp2 HG02257.hp2 HG03041.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0001c0005t0004 a0002c0003t0004 a0001c0005t0001 a0001c0005t0004 a0002c0003t0004	a0001c0005t0001g0015 a0001c0005t0004g0055 a0002c0003t0004g0044 a0001c0005t0001g0015 a0001c0005t0004g0055 a0002c0003t0004g0044	3	88	0.0341	-41	c.155 others(62): Show c.1550-61573_1550-61533delGTATATATATATATATATATGTAT ATATATATAATATATAT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NEU1_chr6_31852659_31867821	31854546	CGGAGAGG others(34): Show CGGAGAGGCTCCTCACTTCTCAGACGGGGCAGTTGCCGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	419	0.0024	-41	c.51 others(52): Show c.5132_*5172delCGCCCGGCAACTGCCCCGTCTGAGAAGTGAGGAG CCTCTCC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3112		chr6	TogoVar
NFATC1_chr18_79390930_79534323	79420236	TGACGTCG others(34): Show TGACGTCGCTGCAGAGAGGAAGAGGGGGACACGTTTCCAGGC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0057 a0001c0006t0004g0057	1	322	0.0031	-41	c.122 others(60): Show c.1226+8765_1226+8805delACGTTTCCAGGCGACGTCGCTGCAGA GAGGAAGAGGGGGAC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79420754	GACGCGTT others(34): Show GACGCGTTTCCAGGCGATGTCGTTGCAGAGGGCAAGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	322	0.0031	-41	c.122 others(60): Show c.1226+9267_1226+9307delCGATGTCGTTGCAGAGGGCAAGAGGG GAACGCGTTTCCAGG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79420854	ATTGCTGC others(34): Show ATTGCTGCAGAGAGGAAGAGGAAGATGCTTTTCCAGGCGACG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01978.hp2 HG02300.hp1 HG00738.hp2 HG01978.hp2 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0026 a0001c0001 a0002c0003 a0002c0026	a0001c0001t0001 a0002c0003t0001 a0002c0026t0001 a0001c0001t0001 a0002c0003t0001 a0002c0026t0001	a0001c0001t0001g0218 a0002c0003t0001g0241 a0002c0026t0001g0239 a0001c0001t0001g0218 a0002c0003t0001g0241 a0002c0026t0001g0239	3	322	0.0093	-41	c.122 others(60): Show c.1226+9374_1226+9414delAAGATGCTTTTCCAGGCGACGTTGCT GCAGAGAGGAAGAGG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar

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