Joint Open Genome and Omics Platform (JoGo)

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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
MYRIP_chr3_39804609_40265321	40192315	T T	TATATGAC others(33): Show TATATGACATATATATATATATATATATATATATATATGTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	99	0.0101	40	c.166 others(59): Show c.1665+1856_1665+1857insGACATATATATATATATATATATATA TATATATGTCATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYSM1_chr1_58649743_58705062	58651407	A A	AGTGTGTG others(33): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA19066.hp1 NA19075.hp1 others(2): Show NA18993.hp1 NA19066.hp1 NA19075.hp1 NA19081.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0138 a0001c0001t0001g0168 a0001c0001t0001g0185 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0168 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0004g0009	5	55	0.0909	40	c.85 others(51): Show c.8589_*8590insACACACACACACACACACACACACACACACACAC ACACAC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3335		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19075.hp2 NA18999.hp2 NA19075.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0015 a0002c0005t0030 a0002c0005t0015 a0002c0005t0030	a0002c0005t0015g0216 a0002c0005t0030g0205 a0002c0005t0015g0216 a0002c0005t0030g0205	2	37	0.0541	40	c.68+ others(55): Show c.68+1882_68+1883insAAAAAAAAAAAAAATATATATATATATATA TATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0087 a0002c0002t0028g0087	1	36	0.0278	40	c.68+ others(55): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAATATATATATATATA TATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(33): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18612.hp1 HG02027.hp2 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0007 a0002c0002t0005g0072 a0002c0002t0002g0007 a0002c0002t0005g0072	2	37	0.0541	40	c.68+ others(55): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1L_chr2_1784113_2336275	1934307	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	75	0.0133	40	c.505 others(57): Show c.505+8674_505+8675insGTGTGTATATATATATATATATATATAT ATATATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	9/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1934307	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	75	0.0133	40	c.505 others(57): Show c.505+8674_505+8675insGTGTATATATATATATATATATATATAT ATATATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	9/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262931	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0043 a0003c0011t0001g0043	1	101	0.0099	40	c.-42 others(61): Show c.-421+21472_-421+21473insTTATATATATATATATATATATAT ATATATATATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262939	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	77	0.0130	40	c.-42 others(61): Show c.-421+21464_-421+21465insATATATATATATATATATATATAT ATATATATATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(33): Show GCATGCGCGCGCGCGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19079.hp2 HG02027.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0162 a0002c0004t0001g0163 a0001c0001t0001g0162 a0002c0004t0001g0163	2	32	0.0625	40	c.75+ others(55): Show c.75+1081_75+1082insTGCGCGCGCGCGCACACACACACACACACA CACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(33): Show GCATGCGCGCGCGCGCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp1 HG01256.hp2 others(2): Show HG00544.hp2 HG01109.hp1 HG01256.hp2 HG01952.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(2): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0337	5	35	0.1429	40	c.75+ others(55): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCACACACACACACACA CACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(33): Show GCATGCGCGCGCGCGCGCACGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0008 a0001c0001t0001g0248 a0001c0001t0001g0249	4	34	0.1176	40	c.75+ others(55): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCACGCACACACACACA CACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(33): Show GCATGCGCGCGCGCGCGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18957.hp1 NA19086.hp2 HG01934.hp2 NA18957.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260	3	33	0.0909	40	c.75+ others(55): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCACACACACACACA CACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(33): Show GCATGCGCGCGCGCGCGCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02896.hp2 HG03492.hp2 others(1): Show HG02040.hp1 HG02896.hp2 HG03492.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0291 others(1): Show a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0003t0003g0340	4	34	0.1176	40	c.75+ others(55): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCACACACACACA CACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(33): Show GCATGCGCGCGCGCGCGCGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03490.hp2 HG02976.hp2 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0008 a0002c0004t0002 a0001c0001t0008 a0002c0004t0002	a0001c0001t0008g0329 a0002c0004t0002g0330 a0001c0001t0008g0329 a0002c0004t0002g0330	2	32	0.0625	40	c.75+ others(55): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCGCGCGCGCACA CACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57689163	A A	ATATACAC others(33): Show ATATACACATATATATGTATAATATACACATATATGTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02895.hp1 others(2): Show HG02572.hp1 HG02622.hp1 HG02895.hp1 HG02896.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0002g0153 others(2): Show a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0002g0153 a0001c0001t0009g0201 a0001c0001t0009g0214	5	170	0.0294	40	c.46 others(51): Show c.4665_*4666insTATACACATATATATGTATAATATACACATATAT GTATAC	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3800		chr15	TogoVar
NAA10_chrX_153924225_153940037	153925252	A A	AATGATGT others(33): Show AATGATGTTAGAACCTACATCTCTGGGTTCAAAGGCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	290	0.0034	40	c.46 others(51): Show c.4695_*4734dupGAAGTGCCTTTGAACCCAGAGATGTAGGTTCTAA CATCAT	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding		3972		chrX	TogoVar
NAA15_chr4_139296505_139396384	139314998	C C	CAGTTCAG others(33): Show CAGTTCAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02970.hp2 HG02896.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0102 a0001c0001t0005g0100 a0001c0001t0005g0102	2	120	0.0167	40	c.54+ others(57): Show c.54+13171_54+13172insCAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTT	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139314998	C C	CAGTTTAG others(33): Show CAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp1 HG02976.hp1 others(1): Show HG00735.hp1 HG01071.hp1 HG02976.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0007 a0002c0007t0007 a0001c0001t0007 a0002c0007t0007	a0001c0001t0007g0170 a0001c0001t0007g0171 a0001c0001t0007g0174 others(1): Show a0001c0001t0007g0170 a0001c0001t0007g0171 a0001c0001t0007g0174 a0002c0007t0007g0115	4	122	0.0328	40	c.54+ others(57): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGTTTAGTTTAGTTT AGTTTAGTTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315006	T T	TTTAGTTT others(33): Show TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGGTTAGGTTAGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03710.hp2 HG00639.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0261 a0001c0001t0002g0259 a0001c0001t0001g0261 a0001c0001t0002g0259	2	210	0.0095	40	c.54+ others(57): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGTTTAGTTTAGGTT AGGTTAGGTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315051	G G	GTTAGGTT others(33): Show GTTAGGTTAGGTTAGGTTAGGTTAGGTTAGTTTAGTTTAGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	134	0.0075	40	c.54+ others(57): Show c.54+13224_54+13225insGTTAGGTTAGGTTAGGTTAGGTTAGTTT AGTTTAGTTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAALAD2_chr11_90129663_90197894	90166104	C C	CTGGCCTA others(33): Show CTGGCCTATGCAGGCAAGTGCAAAGAGGTGACAGTTTTTAT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0228	1	362	0.0028	40	c.127 others(59): Show c.1278+2489_1278+2528dupGGCCTATGCAGGCAAGTGCAAAGAGG TGACAGTTTTTATT	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL2_chr3_174854334_175815548	175181717	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTATATGCATATATATGTGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp1 HG01109.hp1 HG02615.hp1	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0029 a0003c0005t0009 a0003c0004t0029 a0003c0005t0009	a0003c0004t0029g0022 a0003c0005t0009g0007 a0003c0004t0029g0022 a0003c0005t0009g0007	2	44	0.0455	40	c.546 others(59): Show c.546-52213_546-52212insGTGTGTGTGTATATGCATATATATGT GTATATATATGTAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03516.hp2 HG03130.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	2	54	0.0370	40	c.46 others(51): Show c.4671_*4672insTATATATATATATATATATATATATTTTTTTTTT TTTTTT	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3497		chr2	TogoVar
NALCN_chr13_101048776_101421508	101300363	T T	TTTCCTTC others(33): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0104 a0001c0003t0001g0104	1	56	0.0179	40	c.800 others(57): Show c.800-7998_800-7997insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101345737	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG03540.hp2 HG00735.hp1 HG01070.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0010 a0001c0003t0001 a0001c0001t0005 a0001c0001t0010 a0001c0003t0001	a0001c0001t0005g0102 a0001c0001t0010g0149 a0001c0003t0001g0045 a0001c0001t0005g0102 a0001c0001t0010g0149 a0001c0003t0001g0045	3	33	0.0909	40	c.645 others(55): Show c.645-318_645-317insATATATATATATATATATATATATATATAT ATATATATAT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	55	0.0182	40	c.645 others(55): Show c.645-668_645-667insTATATATATATATATAGAGAGAGAGAGAGA GAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALF1_chr13_107158510_107872496	107638201	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02486.hp1 others(5): Show HG00408.hp1 HG00408.hp2 HG02486.hp1 HG03041.hp1 HG04199.hp1 NA18998.hp1 NA18998.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0027 a0001c0001t0043 others(5): Show a0001c0001t0001 a0001c0001t0027 a0001c0001t0043 a0001c0001t0083 a0001c0001t0085 a0001c0002t0002 a0001c0002t0013 a0002c0003t0089	a0001c0001t0001g0061 a0001c0001t0027g0004 a0001c0001t0043g0054 others(5): Show a0001c0001t0001g0061 a0001c0001t0027g0004 a0001c0001t0043g0054 a0001c0001t0083g0116 a0001c0001t0085g0101 a0001c0002t0002g0086 a0001c0002t0013g0082 a0002c0003t0089g0120	8	57	0.1404	40	c.915 others(61): Show c.915+227480_915+227481insCATACATATATATATATATATATA TATATATATATATATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107638201	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATGTATATGTATG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0064 a0001c0001t0060g0064	1	50	0.0200	40	c.915 others(61): Show c.915+227480_915+227481insCATACATATACATATATATATATA TATATATATATATATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAPEPLD_chr7_103094776_103154099	103099575	C C	CGTGTGTG others(33): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(31): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00738.hp2 HG00741.hp1 HG01123.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02080.hp2 HG02148.hp2 HG02273.hp1 HG02559.hp2 HG02895.hp1 HG02922.hp2 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG04228.hp1 NA18522.hp1 NA18949.hp1 NA18951.hp2 NA18994.hp2 NA19012.hp1 NA19012.hp2 NA19065.hp1 NA19075.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0023 a0002c0002t0001 a0002c0002t0004 a0002c0002t0008	a0001c0001t0001g0015 a0001c0001t0001g0065 a0001c0001t0001g0067 others(28): Show a0001c0001t0001g0015 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0002g0066 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0005g0048 a0001c0001t0005g0114 a0001c0001t0023g0099 a0002c0002t0001g0025 a0002c0002t0001g0057 a0002c0002t0004g0196 a0002c0002t0008g0271	34	91	0.3736	40	c.38 others(51): Show c.3853_*3854insACACACACACACACACACACACACACACACACAC ACACAC	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		200		chr7	TogoVar
NAV1_chr1_201534127_201831969	201642525	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01361.hp1 HG01496.hp2 others(1): Show HG01243.hp2 HG01361.hp1 HG01496.hp2 HG01978.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0038 a0002c0002t0001 others(1): Show a0001c0001t0008 a0001c0001t0038 a0002c0002t0001 a0002c0002t0004	a0001c0001t0008g0022 a0001c0001t0038g0202 a0002c0002t0001g0030 others(1): Show a0001c0001t0008g0022 a0001c0001t0038g0202 a0002c0002t0001g0030 a0002c0002t0004g0009	4	59	0.0678	40	c.827 others(57): Show c.827-6078_827-6077insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19897883	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0007 a0001c0071t0007	a0001c0071t0007g0011 a0001c0071t0007g0011	1	159	0.0063	40	c.931 others(57): Show c.931+5291_931+5292insATATATATATATATATATATATATATAT ATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	6/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19897886	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01168.hp2 HG02602.hp2 others(1): Show HG00673.hp2 HG01168.hp2 HG02602.hp2 HG03831.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0002c0013 a0002c0118 others(1): Show a0002c0002 a0002c0013 a0002c0118 a0006c0142	a0002c0002t0004 a0002c0013t0001 a0002c0118t0001 others(1): Show a0002c0002t0004 a0002c0013t0001 a0002c0118t0001 a0006c0142t0002	a0002c0002t0004g0026 a0002c0013t0001g0145 a0002c0118t0001g0036 others(1): Show a0002c0002t0004g0026 a0002c0013t0001g0145 a0002c0118t0001g0036 a0006c0142t0002g0107	4	92	0.0435	40	c.931 others(57): Show c.931+5311_931+5312insATATATATATATATATATATATATATAT ATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	6/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19897886	T T	TTTTATAT others(33): Show TTTTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0012 a0001c0047t0012	a0001c0047t0012g0067 a0001c0047t0012g0067	1	89	0.0112	40	c.931 others(57): Show c.931+5293_931+5294insTTATATATATATATATATATATATATAT ATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	6/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106155	G G	GTGTATAT others(33): Show GTGTATATATATATATATATATATATATGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0008 a0008	a0008c0128 a0008c0128	a0008c0128t0003 a0008c0128t0003	a0008c0128t0003g0127 a0008c0128t0003g0127	1	129	0.0078	40	c.684 others(57): Show c.6841+429_6841+430insGTATATATATATATATATATATATATGT GTGTGTGTATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NBEA_chr13_34937270_35677736	35150793	T T	TTAGAGTA others(33): Show TTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0012 a0001c0005t0004g0012	1	28	0.0357	40	c.244 others(59): Show c.2446-4943_2446-4942insAGTAGAGTAGAGTAGAGTAGAGTAGA GTAGAGTAGAGTAG	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	18/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35308568	A A	ATATATAT others(33): Show ATATATATGTATATATGTATATATGTATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	42	0.0238	40	c.583 others(57): Show c.5839-952_5839-913dupGTATATATGTATATATGTATATATGTAT ATATGTATATAT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	35/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBPF11_chr1_148097151_148157281	148142042	A A	AAGGCAGG others(33): Show AAGGCAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0023 a0023	a0023c0039 a0023c0039	a0023c0039t0017 a0023c0039t0017	a0023c0039t0017g0270 a0023c0039t0017g0270	1	289	0.0035	40	c.-27 others(59): Show c.-277+1372_-277+1373insCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTGCCT	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	2/23			chr1	TogoVar
NBPF11_chr1_148097151_148157281	148142046	C C	CAGGGAGG others(33): Show CAGGGAGGGAGGAAGGAAGGCAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0026 a0026	a0026c0040 a0026c0040	a0026c0040t0017 a0026c0040t0017	a0026c0040t0017g0271 a0026c0040t0017g0271	1	385	0.0026	40	c.-27 others(59): Show c.-277+1368_-277+1369insTCCTCCCTCCCTCCCTCCCTGCCTTC CTTCCTCCCTCCCT	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	2/23			chr1	TogoVar
NCAM1_chr11_112956420_113283436	113185079	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG02280.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0117 a0001c0001t0014g0200 a0001c0001t0004g0117 a0001c0001t0014g0200	2	181	0.0110	40	c.53- others(57): Show c.53-17299_53-17298insTATATATATATATATATATATATATATA TAGAGAGAGAGA	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM1_chr11_112956420_113283436	113227239	A A	ATAAAGGG others(33): Show ATAAAGGGGATATCACCACTGATCCCACAGAAATACAAACT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp2 NA19240.hp1 HG02723.hp1 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0033 a0001c0002t0008 a0001c0002t0033	a0001c0002t0008g0081 a0001c0002t0008g0222 a0001c0002t0033g0135 a0001c0002t0008g0081 a0001c0002t0008g0222 a0001c0002t0033g0135	3	242	0.0124	40	c.109 others(59): Show c.1090-4405_1090-4366dupTAAAGGGGATATCACCACTGATCCCA CAGAAATACAAACT	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM2_chr21_20993409_21548329	21430394	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02615.hp2 HG03209.hp2 others(2): Show HG00558.hp2 HG02615.hp2 HG03209.hp2 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0032 a0002c0002t0003 a0002c0002t0010 others(2): Show a0001c0001t0032 a0002c0002t0003 a0002c0002t0010 a0002c0002t0031 a0003c0006t0003	a0001c0001t0032g0125 a0002c0002t0003g0100 a0002c0002t0010g0092 others(2): Show a0001c0001t0032g0125 a0002c0002t0003g0100 a0002c0002t0010g0092 a0002c0002t0031g0039 a0003c0006t0003g0030	5	100	0.0500	40	c.148 others(59): Show c.1481-1705_1481-1704insATATATATATATATATATATATATAT ATATATATATATAT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21530265	T T	TAATTATA others(33): Show TAATTATATATAATTTAATTTAATTATATATAATTAAATTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0054 a0002c0002t0015g0054	1	131	0.0076	40	c.228 others(59): Show c.2283-4257_2283-4218dupTAATTTAATTATATATAATTAAATTA AATTATATATAATT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPG2_chr7_158626169_158709804	158648527	C C	CCAAATGG others(33): Show CCAAATGGACGACAACCACGGCAAATGGACGACAACCACGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0311 a0011c0014t0001g0311	1	312	0.0032	40	c.307 others(59): Show c.3076-1965_3076-1964insCCGTGGTTGTCGTCCATTTGCCGTGG TTGTCGTCCATTTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648527	C C	CCAAATGG others(33): Show CCAAATGGACTACAACCACGGCAAATGGACTACAACCACGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	312	0.0032	40	c.307 others(59): Show c.3076-1965_3076-1964insCCGTGGTTGTAGTCCATTTGCCGTGG TTGTAGTCCATTTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648617	G G	GACAACCA others(33): Show GACAACCACGCCAAATGGACCACAACCACGCCAAATGGACC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0166 a0001c0001t0005g0166	1	139	0.0072	40	c.307 others(59): Show c.3076-2094_3076-2055dupGGTCCATTTGGCGTGGTTGTGGTCCA TTTGGCGTGGTTGT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648687	C C	CCAAATGG others(33): Show CCAAATGGACTACAACCACGCCAAATGGACTACAACCACGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0346 a0012c0020t0001g0346	1	372	0.0027	40	c.307 others(59): Show c.3076-2125_3076-2124insCCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648687	C C	CCAAATGG others(33): Show CCAAATGGACTACAACCACGGCAAATGGACTACAACCACGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	372	0.0027	40	c.307 others(59): Show c.3076-2125_3076-2124insCCGTGGTTGTAGTCCATTTGCCGTGG TTGTAGTCCATTTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667329	G G	GCCCGCCT others(33): Show GCCCGCCTTACCTACCCTGTGGCCCTCCACCCTCTTACCCA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	122	0.0082	40	c.148 others(59): Show c.1480-2580_1480-2579insTGGGTAAGAGGGTGGAGGGCCACAGG GTAGGTAAGGCGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPH2_chr22_50503224_50529780	50513400	G G	GGGCCGAG others(33): Show GGGCCGAGGTGGCTCACGCCTGTGATCCCAGCACTTAGGGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0226 a0001c0001t0005g0226	1	382	0.0026	40	c.109 others(57): Show c.109-2993_109-2954dupCACGCCTGTGATCCCAGCACTTAGGGAG GCCGAGGTGGCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr22	TogoVar

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