Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MAN2B2_chr4_6570189_6628362	6579069	TCACCACC others(86): Show TCACCACCACCACCACCATCACCATCACCAGCACCACCACCATCACCATC ACCACTACCACCACCACCACCATCACCACCACCATCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0137 a0004c0005t0001g0138 a0004c0005t0001g0137 a0004c0005t0001g0138	2	362	0.0055	-93	c.391 others(108): Show c.391+626_391+718delTACCACCACCACCACCATCACCACCACCAT CACCATCACCACCACCACCACCACCATCACCATCACCAGCACCACCACCA TCACCATCACCAC		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAPK1_chr22_21754657_21872645	21814632	ACCAGCCT others(86): Show ACCAGCCTGGCTAACATGGTGAAACACTGTCTCTACTAAAAATACAAGAA TTAGCAGGGCGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	348	0.0029	-93	c.120 others(110): Show c.120-6879_120-6787delCTGAGTAGCTGGGATTACAGGCGCGTGC CACCACGCCCTGCTAATTCTTGTATTTTTAGTAGAGACAGTGTTTCACCA TGTTAGCCAGGCTGG		MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8						chr22	TogoVar
MARS1_chr12_57483068_57521652	57493785	TATATTAT others(86): Show TATATTATATATTATATTATATAATGTATATTATATATATTATATTATAT ATTATAATATATAATATATATATTTATATTATATAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	288	0.0035	-93	c.770 others(110): Show c.770+3146_770+3238delTATATATTATATTATATAATGTATATTA TATATATTATATTATATATTATAATATATAATATATATATTTATATTATA TAATATATATAATAT		MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
MDP1_chr14_24208943_24221066	24209057	GAAAGCTA others(86): Show GAAAGCTACTTGCTCCTTCCATTCCAAGTAGCAAAGCTACTTGCTCCTTC CATTCCAAGTAGCAAAGCTACTTGCTCCTTCCATTCCAAGTAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02976.hp2 others(3): Show HG01891.hp2 HG02145.hp2 HG02976.hp2 HG03579.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0010 a0001c0001t0001g0033	6	404	0.0149	-93	c.48 others(104): Show c.4874_*4966delGCTACTTGGAATGGAAGGAGCAAGTAGCTTTGCT ACTTGGAATGGAAGGAGCAAGTAGCTTTGCTACTTGGAATGGAAGGAGCA AGTAGCTTT		MDP1	ENSG00000213920.9	transcript	ENST00000288087.12	protein_coding					4885		chr14	TogoVar
METRNL_chr17_83074609_83100122	83090392	CACACACA others(86): Show CACACACACCCCCCGCCCCACACACACACCCCCCGCCCCACACACACACA CCCCCCGCCCCACACACACACCCCCCGCCCCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	399	0.0025	-93	c.557 others(110): Show c.557-2774_557-2682delACACACACCCCCCGCCCCACACACACAC CCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACCCCCCGCC CCACACACACACACA		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3						chr17	TogoVar
MGAM_chr7_141990879_142111747	142043727	ATATAATA others(86): Show ATATAATATATACATTATATACACATACGACATATAATATATACATTATA TACACATACGACATATAATATATACATTATATACACATACGACG	A A	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0079 a0001c0010t0001g0079	1	316	0.0032	-93	c.249 others(112): Show c.2498+2912_2498+3004delATATAATATATACATTATATACACAT ACGACATATAATATATACATTATATACACATACGACGTATAATATATACA TTATATACACATACGAC		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MIA2_chr14_39228915_39355694	39285571	CCCCCCGA others(86): Show CCCCCCGACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGCCC CCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCTGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18990.hp1 NA19012.hp1 NA18939.hp2 NA18990.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0317 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0317	3	368	0.0082	-93	c.213 others(112): Show c.2131-5442_2131-5350delGACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGCTGCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCG GGCTGGGGCTGACCCCC		MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	9/28					INFO_REALIGN_3_PRIME	chr14	TogoVar
MINAR1_chr15_79427336_79477304	79438765	TTGTGGAT others(86): Show TTGTGGATGGGGTGGGTAGTGAGTGTGTCGGGTATGGGTGGGGTGGGTAG TGAGTGTGTGGGGTGTGGATGGGGTGGGTAGTGAGTGTGTGGGG	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02622.hp1 HG01943.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0008 a0001c0001t0001 a0001c0006t0008	a0001c0001t0001g0130 a0001c0006t0008g0109 a0001c0001t0001g0130 a0001c0006t0008g0109	2	390	0.0051	-93	c.-51 others(110): Show c.-51+6386_-51+6478delATGGGGTGGGTAGTGAGTGTGTGGGGTG TGGATGGGGTGGGTAGTGAGTGTGTCGGGTATGGGTGGGGTGGGTAGTGA GTGTGTGGGGTGTGG		MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
MLPH_chr2_237482251_237560322	237544525	GGGGGACA others(86): Show GGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTG TTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03130.hp2 HG03710.hp2 others(2): Show HG02809.hp2 HG03130.hp2 HG03710.hp2 NA19012.hp2 NA19091.hp2	a0002 a0007 a0009 others(2): Show a0002 a0007 a0009 a0016 a0021	a0002c0002 a0007c0007 a0009c0011 others(2): Show a0002c0002 a0007c0007 a0009c0011 a0016c0025 a0021c0026	a0002c0002t0001 a0007c0007t0002 a0009c0011t0001 others(2): Show a0002c0002t0001 a0007c0007t0002 a0009c0011t0001 a0016c0025t0003 a0021c0026t0002	a0002c0002t0001g0053 a0007c0007t0002g0029 a0009c0011t0001g0088 others(2): Show a0002c0002t0001g0053 a0007c0007t0002g0029 a0009c0011t0001g0088 a0016c0025t0003g0270 a0021c0026t0002g0038	5	286	0.0175	-93	c.153 others(112): Show c.1539+1869_1539+1961delGGACAGTTGTTGAGTTGGGGGACACT TTAGTGTTGGGGGGGACATTGTTTATTGGGGGCATAGTGGTGTGTGGTTG TCAGTGTGTGGTGGTGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MMADHC_chr2_149564637_149592775	149575610	TGAATAAA others(86): Show TGAATAAAGGGTGGAAATGACAGTCATCATTTTAAGACATTGGTTCACTA TTACTTAAATAATGACCATAAAATTAAATTATTAGCAATTGAAA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG03041.hp1 HG02572.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0076 a0001c0001t0001g0077	2	334	0.0060	-93	c.609 others(106): Show c.609+8_609+100delTTTCAATTGCTAATAATTTAATTTTATGGTCA TTATTTAAGTAATAGTGAACCAATGTCTTAAAATGATGACTGTCATTTCC ACCCTTTATTC		MMADHC	ENSG00000168288.13	transcript	ENST00000303319.10	protein_coding	6/7						chr2	TogoVar
MPPED1_chr22_43407014_43512848	43495666	AGGTGGTG others(86): Show AGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGATGGAGGTGGTG GTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA19007.hp1 NA19011.hp2 HG01167.hp2 NA19007.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0008 a0001c0001t0001 a0001c0001t0003 a0001c0002t0008	a0001c0001t0001g0218 a0001c0001t0003g0183 a0001c0002t0008g0102 a0001c0001t0001g0218 a0001c0001t0003g0183 a0001c0002t0008g0102	3	250	0.0120	-93	c.633 others(110): Show c.633-2442_633-2350delGGTGATGGAGGTGGTGGTGGTGGAGGTG GTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGAT GGTGGTGGTGGAGGT		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496239	TGGTGGTG others(86): Show TGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTG GAGGTGGTGGTGGAGGTAGTGGTGGCGGAGATGGTGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0199 a0001c0003t0002g0199	1	250	0.0040	-93	c.633 others(110): Show c.633-1988_633-1896delGAGGTGGTGGTGGAGGTAGTGGTGGTGG AGATGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGCGGAGATGGTG GTGATGGAGGTGGTG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496247	GAGGTGGT others(86): Show GAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGT GGTGGAGGTAGTGGTGGCGGAGATGGTGGTGATGGAGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0069 a0001c0007t0008g0069	1	250	0.0040	-93	c.633 others(110): Show c.633-1987_633-1895delAGGTGGTGGTGGAGGTAGTGGTGGTGGA GATGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGCGGAGATGGTGG TGATGGAGGTGGTGA		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6						chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496683	TGGTGGTG others(86): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGAA GTGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGGTGGTGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0032 a0001c0005t0002g0032	1	250	0.0040	-93	c.633 others(110): Show c.633-1540_633-1448delTGGTGGTGGTGGTGGTGGTGGTGGTAGT GGTGGTGGAAGTGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGGTGGTGG TGGAGGTGGTGGTGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MUC4_chr3_195741771_195816929	195773554	TATCGCTC others(86): Show TATCGCTCAGCAGGTGTGGACACCCTCTCGCCATCGCTCAGCAGGTGTGG ACACCCTCTCTCTATCGCTCAGCAGGTGTGGACACCCTCTCGCC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03041.hp1 HG03209.hp2 others(2): Show HG02717.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 NA18906.hp1	a0051 a0052 a0054 others(2): Show a0051 a0052 a0054 a0055 a0056	a0051c0139 a0052c0140 a0054c0141 others(2): Show a0051c0139 a0052c0140 a0054c0141 a0055c0143 a0056c0142	a0051c0139t0001 a0052c0140t0002 a0054c0141t0001 others(2): Show a0051c0139t0001 a0052c0140t0002 a0054c0141t0001 a0055c0143t0001 a0056c0142t0007	a0051c0139t0001g0068 a0052c0140t0002g0062 a0054c0141t0001g0069 others(2): Show a0051c0139t0001g0068 a0052c0140t0002g0062 a0054c0141t0001g0069 a0055c0143t0001g0007 a0056c0142t0007g0006	5	249	0.0201	-93	c.130 others(112): Show c.13077+525_13077+617delGGCGAGAGGGTGTCCACACCTGCTGA GCGATAGAGAGAGGGTGTCCACACCTGCTGAGCGATGGCGAGAGGGTGTC CACACCTGCTGAGCGAT		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	4/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195782385	TGCTGAGG others(86): Show TGCTGAGGAAGGGCTGGTGACATGAAGAGGGTTGGCGTGACCTGTGGATG CTGAGGAAGTGTCGGTGACAGGAAGCGGGGTGGCGTGACCGGTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18906.hp2 NA18906.hp2	a0080 a0080	a0080c0170 a0080c0170	a0080c0170t0005 a0080c0170t0005	a0080c0170t0005g0240 a0080c0170t0005g0240	1	249	0.0040	-93	c.910 others(102): Show c.9102_9194delCACCGGTCACGCCACCCCGCTTCCTGTCACCGACAC TTCCTCAGCATCCACAGGTCACGCCAACCCTCTTCATGTCACCAGCCCTT CCTCAGC	p.Thr others(15): Show p.Thr3035_Ala3065del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9306/16756	9102/16239	3034/5412			chr3	TogoVar
MXRA5_chrX_3303565_3351652	3341396	ATAATATA others(86): Show ATAATATATATTATTATTATATATAATATATGTAATATATATTATTATTA TATATAATATATGTAATATATATTATTATTATATATAATATATG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	284	0.0035	-93	c.188 others(110): Show c.188+2157_188+2249delCATATATTATATATAATAATAATATATA TTACATATATTATATATAATAATAATATATATTACATATATTATATATAA TAATAATATATATTA		MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6						chrX	TogoVar
MYO1F_chr19_8515778_8582442	8543726	CTGGTGGT others(86): Show CTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGT GCTGGTGGTGCTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	342	0.0029	-93	c.152 others(110): Show c.1524+478_1524+570delCCACCACCAGCACCACCAGCACCACCAC CACCAGCACCACCAGCACCACCAGCACCACCACCACCACCACCACCAGCA CCACCAGCACCACCA		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
MYZAP_chr15_57586904_57690364	57687500	TGTGTGTA others(86): Show TGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATATA TGTGTGTACAATATACACATATATATGTGTGTACAATATACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp2 others(59): Show HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG01109.hp2 HG01255.hp1 HG01257.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02809.hp2 HG03017.hp1 HG03098.hp1 HG03225.hp2 HG03453.hp2 HG03492.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18965.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18993.hp2 NA19005.hp2 NA19009.hp1 NA19056.hp2 NA19063.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19083.hp2 NA19088.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0012	a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0184 others(58): Show a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0283 a0001c0001t0004g0276 a0001c0003t0002g0011 a0001c0003t0002g0079 a0001c0003t0002g0086 a0001c0003t0003g0139 a0001c0003t0003g0146 a0001c0003t0003g0149 a0001c0003t0004g0110 a0001c0003t0004g0115 a0001c0003t0006g0116 a0001c0003t0006g0117 a0001c0003t0006g0120 a0002c0002t0002g0003 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0017 a0002c0002t0002g0039 a0002c0002t0002g0044 a0002c0002t0002g0047 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0075 a0002c0002t0002g0081 a0002c0002t0002g0087 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0128 a0002c0002t0004g0220 a0002c0002t0005g0060 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0070 a0002c0002t0012g0089	62	352	0.1761	-93	c.30 others(104): Show c.3003_*3095delGTGTGTACAATATACACATATATATGTGTGTACA ATATACACATATATATGTGTGTACAATATACACATATATATGTGTGTACA ATATACACA		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2137		chr15	TogoVar
NCEH1_chr3_172625249_172716067	172671624	GTATAAAT others(86): Show GTATAAATGTAGCATGTATATATACATACACACATGCACACAGGCACACA CATACTTGTTACATATATAATTACACATGCACATATCAGGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19001.hp2 HG02129.hp2 NA19001.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0174 a0002c0002t0003g0309 a0001c0001t0001g0174 a0002c0002t0003g0309	2	332	0.0060	-93	c.139 others(112): Show c.139-23603_139-23511delTACACCTGATATGTGCATGTGTAATT ATATATGTAACAAGTATGTGTGTGCCTGTGTGCATGTGTGTATGTATATA TACATGCTACATTTATA		NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding	1/4						chr3	TogoVar
NDUFB11_chrX_47137216_47149702	47148585	TATGTATC others(86): Show TATGTATCCTTCTATGATACATATCATAGAAAATGTATCCTTCTATGATA CATATCATAGAAAATGTATCCTTCTATGATACATATCATAGAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01243.hp1 others(15): Show HG01081.hp2 HG01099.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01952.hp1 HG02257.hp2 HG02615.hp1 HG02735.hp1 HG02818.hp1 HG04228.hp1 HG06807.hp2 NA18982.hp1 NA18989.hp1 NA19030.hp2 NA19091.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0034	18	274	0.0657	-93	c.-39 others(104): Show c.-3999_-3907delTTTCTATGATATGTATCATAGAAGGATACATTTT CTATGATATGTATCATAGAAGGATACATTTTCTATGATATGTATCATAGA AGGATACAT		NDUFB11	ENSG00000147123.12	transcript	ENST00000377811.4	protein_coding					3884		chrX	TogoVar
NFATC4_chr14_24363184_24384601	24364552	GTACATAT others(86): Show GTACATATATAGTATATATATAGTATATCTGTGTATATGCTATATAGTAT AGTGTATAGTATATCTGTGTATATATAGTATATCTGTACATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(90): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02071.hp1 HG02148.hp2 HG02165.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02698.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18982.hp2 NA18985.hp2 NA18989.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19077.hp2 NA19078.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0022 a0002c0003 others(5): Show a0001c0001 a0001c0022 a0002c0003 a0002c0013 a0002c0023 a0004c0010 a0004c0016 a0005c0015	a0001c0001t0004 a0001c0022t0003 a0002c0003t0002 others(8): Show a0001c0001t0004 a0001c0022t0003 a0002c0003t0002 a0002c0003t0010 a0002c0003t0012 a0002c0003t0013 a0002c0013t0002 a0002c0023t0002 a0004c0010t0001 a0004c0016t0001 a0005c0015t0002	a0001c0001t0004g0002 a0001c0022t0003g0005 a0002c0003t0002g0001 others(16): Show a0001c0001t0004g0002 a0001c0022t0003g0005 a0002c0003t0002g0001 a0002c0003t0002g0009 a0002c0003t0002g0027 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0033 a0002c0003t0002g0051 a0002c0003t0010g0001 a0002c0003t0012g0001 a0002c0003t0013g0001 a0002c0013t0002g0001 a0002c0023t0002g0001 a0004c0010t0001g0016 a0004c0016t0001g0028 a0005c0015t0002g0001	93	394	0.2360	-93	c.-37 others(104): Show c.-3788_-3696delTACATATATAGTATATATATAGTATATCTGTGTA TATGCTATATAGTATAGTGTATAGTATATCTGTGTATATATAGTATATCT GTACATATA		NFATC4	ENSG00000100968.14	transcript	ENST00000250373.9	protein_coding					3631		chr14	TogoVar
NKAPD1_chr11_112069299_112090150	112080110	TGGCCTGG others(86): Show TGGCCTGGTCAGATTTTTTTCCACTGGACTTTACAAATGTACAGAGGAAC AGATAATCAAAGTGCTGGGATTACAGGCATGAGCTACTGCACTA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0048 a0001c0001t0021g0048	1	382	0.0026	-93	c.171 others(108): Show c.171-283_171-191delTTTTCCACTGGACTTTACAAATGTACAGAG GAACAGATAATCAAAGTGCTGGGATTACAGGCATGAGCTACTGCACTAGG CCTGGTCAGATTT		NKAPD1	ENSG00000150776.18	transcript	ENST00000393047.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTSR1_chr20_62703836_62767771	62747399	ACCCACAG others(86): Show ACCCACAGCTAACACCACACTCAGTGTAAAGGCCACGTATGATGACAGAC CCACAGCTAACACCACACTCAGTGTAAAGGCCACGTATGACAGT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0127 a0001c0002t0004g0127	1	316	0.0032	-93	c.715 others(110): Show c.715-7244_715-7152delTGACAGACCCACAGCTAACACCACACTC AGTGTAAAGGCCACGTATGACAGTCCCACAGCTAACACCACACTCAGTGT AAAGGCCACGTATGA		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
OPCML_chr11_132409981_133537501	133140955	AGAAGAAG others(86): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGACGACG ACGACGACGACGACGACGACGACGACGACGACGACGACGACGAC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	68	0.0147	-93	c.62- others(112): Show c.62-198038_62-197946delGTCGTCGTCGTCGTCGTCGTCGTCGT CGTCGTCGTCGTCGTCGTCGTCGTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OR1N1_chr9_122521358_122532293	122531983	GGCAAATC others(86): Show GGCAAATCCCTGAGCTTGATGTGTAGGGAAGGCAGGGGGCCTGAATAATC CCTGGGAAGTAGTAGAATAGCAAATTTGCCAGTCCTGGGTGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(157): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01978.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0004 a0001c0006 a0002c0002 others(3): Show a0001c0004 a0001c0006 a0002c0002 a0003c0003 a0005c0011 a0006c0010	a0001c0004t0000 a0001c0006t0000 a0002c0002t0000 others(3): Show a0001c0004t0000 a0001c0006t0000 a0002c0002t0000 a0003c0003t0000 a0005c0011t0000 a0006c0010t0000	a0001c0004t0000g0000 a0001c0006t0000g0000 a0002c0002t0000g0000 others(3): Show a0001c0004t0000g0000 a0001c0006t0000g0000 a0002c0002t0000g0000 a0003c0003t0000g0000 a0005c0011t0000g0000 a0006c0010t0000g0000	160	452	0.3540	-93	c.-47 others(104): Show c.-4783_-4691delTCCCACCCAGGACTGGCAAATTTGCTATTCTACT ACTTCCCAGGGATTATTCAGGCCCCCTGCCTTCCCTACACATCAAGCTCA GGGATTTGC		OR1N1	ENSG00000171505.6	transcript	ENST00000304880.2	protein_coding					4691		chr9	TogoVar
OR1N1_chr9_122521358_122532293	122532072	TGGGAGCA others(86): Show TGGGAGCAAATCCCTGAGCTTGATGTGTAGGGAAGGCAGGGGGCCTGAAT AATCCCTGGGAAGTAGTAGAATAGCAAATTTGCCAGTCCTGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(247): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18976.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0012 a0001c0013 a0004c0009	a0001c0001t0000 a0001c0004t0000 a0001c0005t0000 others(3): Show a0001c0001t0000 a0001c0004t0000 a0001c0005t0000 a0001c0012t0000 a0001c0013t0000 a0004c0009t0000	a0001c0001t0000g0000 a0001c0004t0000g0000 a0001c0005t0000g0000 others(3): Show a0001c0001t0000g0000 a0001c0004t0000g0000 a0001c0005t0000g0000 a0001c0012t0000g0000 a0001c0013t0000g0000 a0004c0009t0000g0000	250	452	0.5531	-93	c.-48 others(104): Show c.-4872_-4780delGCCCAGGACTGGCAAATTTGCTATTCTACTACTT CCCAGGGATTATTCAGGCCCCCTGCCTTCCCTACACATCAAGCTCAGGGA TTTGCTCCC		OR1N1	ENSG00000171505.6	transcript	ENST00000304880.2	protein_coding					4780		chr9	TogoVar
OXSR1_chr3_38160537_38260484	38161669	CATGTCAT others(86): Show CATGTCATATATTATGTATATTTCATATACATATGTCATATATTATGTAT ATTTCATATACATATGTCATATATTATGTATATTTCATATACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 NA18943.hp1 HG03195.hp2 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0183 a0002c0002t0002g0223 a0002c0002t0001g0183 a0002c0002t0002g0223	2	248	0.0081	-93	c.-42 others(104): Show c.-4207_-4115delATGTCATATATTATGTATATTTCATATACATATG TCATATATTATGTATATTTCATATACATATGTCATATATTATGTATATTT CATATACAT		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					3867		chr3	TogoVar
PAK1IP1_chr6_10689972_10714782	10698218	CAGCAATA others(86): Show CAGCAATATCTGACTTTATTGAGGGCATATTATGTACCCCTCTGTGTGCC AAGAAAGTAGAAGAGAACACCTAGTTTCAAAGATGTAGCGTCAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18948.hp1 NA19057.hp1 HG00558.hp2 NA18948.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094	3	256	0.0117	-93	c.247 others(108): Show c.247+818_247+910delAGCGTCATAGCAATATCTGACTTTATTGAG GGCATATTATGTACCCCTCTGTGTGCCAAGAAAGTAGAAGAGAACACCTA GTTTCAAAGATGT		PAK1IP1	ENSG00000111845.5	transcript	ENST00000379568.4	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr6	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109779902	TGGCATCT others(86): Show TGGCATCTGCCCGGTGGAGGCGCCACTGCGCTCTGCCTCCGCCCCAGCAA GCGCGTGTCCACGCGGGCGCGCCACGCCAGCCGTGCGCCCCAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0033 a0001c0001t0008g0033	1	222	0.0045	-93	c.-58 others(102): Show c.-586_-494delGGCATCTGCCCGGTGGAGGCGCCACTGCGCTCTGCC TCCGCCCCAGCAAGCGCGTGTCCACGCGGGCGCGCCACGCCAGCCGTGCG CCCCAGC		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding					295		chr9	TogoVar
PAQR5_chr15_69293912_69412780	69384410	CGGGCCCT others(86): Show CGGGCCCTCCGTGTTCATGGTGGAGGGTGAGCGGGCCCTCCGTGTTCATG GTGGAGGGTGAGTGGGCCCTCCGTGTTCATGGTGGAGGGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02155.hp2 HG02897.hp2 others(4): Show HG02109.hp2 HG02155.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0003t0003 a0001c0003t0020	a0001c0001t0001g0120 a0001c0001t0003g0131 a0001c0001t0003g0250 others(4): Show a0001c0001t0001g0120 a0001c0001t0003g0131 a0001c0001t0003g0250 a0001c0001t0006g0251 a0001c0001t0019g0039 a0001c0003t0003g0248 a0001c0003t0020g0132	7	284	0.0247	-93	c.180 others(108): Show c.180-236_180-144delCGGGCCCTCCGTGTTCATGGTGGAGGGTGA GTGGGCCCTCCGTGTTCATGGTGGAGGGTGAGTGGGCCCTCCGTGTTCAT GGTGGAGGGTGAG		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	204648915	TATATCAT others(86): Show TATATCATATAAATAATATATATTTATAATAGATATCATATAAATAATAT ATATTTATAATAGATATCATATAAATAATATATATTTATAATAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0005 a0008c0007t0005	a0008c0007t0005g0040 a0008c0007t0005g0040	1	54	0.0185	-93	c.121 others(112): Show c.121-37235_121-37143delGATATCATATAAATAATATATATTTA TAATAGATATCATATAAATAATATATATTTATAATAGATATCATATAAAT AATATATATTTATAATA		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PDCD6_chr5_266646_319974	307233	TGTGTGCT others(86): Show TGTGTGCTCGGCGTGTGTGTGCTCGGCGTGTGTGTGCACACGTGTGCCGT GCGCCTCAGAAGGGGCGTTAGGCAGAACGCGTGCCCATTCTCAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(118): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02559.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02886.hp1 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18950.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19076.hp1 NA19083.hp2 NA19085.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(112): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0328 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0006g0204 a0001c0001t0006g0221 a0001c0001t0006g0229 a0001c0002t0001g0319 a0001c0002t0001g0320	121	360	0.3361	-93	c.367 others(108): Show c.367+570_367+662delTGCTCGGCGTGTGTGTGCTCGGCGTGTGTG TGCACACGTGTGCCGTGCGCCTCAGAAGGGGCGTTAGGCAGAACGCGTGC CCATTCTCAGGTG		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDXK_chr21_43714129_43767299	43741349	CGGGGGGG others(86): Show CGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0095 a0001c0001t0058g0095	1	358	0.0028	-93	c.143 others(108): Show c.143-311_143-219delGCTCGCGGGGGGCTGGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZRN4_chr12_41183320_41579745	41402537	GTGTATAC others(86): Show GTGTATACATATATATATATATACTGAGTATATATATATATATATATATA TATACTGAGTATATACATATATATATATATATACTGAGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02723.hp1 HG02970.hp2 others(8): Show HG01175.hp1 HG02723.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0002c0002 a0002c0016 others(3): Show a0001c0001 a0002c0002 a0002c0016 a0002c0017 a0003c0036 a0011c0047	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0016t0001 a0002c0017t0001 a0003c0036t0001 a0011c0047t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0086 a0001c0001t0004g0006 a0002c0002t0001g0181 a0002c0002t0001g0192 a0002c0016t0001g0101 a0002c0017t0001g0092 a0003c0036t0001g0007 a0011c0047t0001g0139	11	206	0.0534	-93	c.844 others(114): Show c.844-103917_844-103825delGTATACATATATATATATATACTG AGTATATATATATATATATATATATATACTGAGTATATACATATATATAT ATATATACTGAGTATATAT		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PERM1_chr1_970198_987093	977190	CACCAACC others(86): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	408	0.0025	-93	c.215 others(110): Show c.2150-659_2150-567delCGGTGGGGGCAGGCGGTTCCCGGGGTTG GCGGGGTGGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGAGGCG GTTCCCGGGGTTGGT		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PID1_chr2_229018973_229276287	229084846	CTTTAAAG others(86): Show CTTTAAAGCTTCATAATTCACAGCGAGCAAGCAGTTAGGATACGGCCTAA GAAAAATACTGCTTTATTTTCCTTAGTAGTTCAAAGGAGATAGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00642.hp1 others(66): Show HG00140.hp2 HG00438.hp2 HG00642.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01433.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02602.hp2 HG02615.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19081.hp2 NA19085.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0028 a0001c0002t0007	a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0049 others(66): Show a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0060 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0162 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0236 a0001c0001t0003g0042 a0001c0001t0003g0057 a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0096 a0001c0001t0003g0118 a0001c0001t0003g0178 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0216 a0001c0001t0003g0226 a0001c0001t0004g0251 a0001c0001t0019g0177 a0001c0001t0028g0256 a0001c0002t0007g0214 a0001c0002t0007g0229	69	256	0.2695	-93	c.178 others(112): Show c.178-58831_178-58739delACTATCTCCTTTGAACTACTAAGGAA AATAAAGCAGTATTTTTCTTAGGCCGTATCCTAACTGCTTGCTCGCTGTG AATTATGAAGCTTTAAA		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2						chr2	TogoVar
PKP3_chr11_389209_409908	401485	CCCCGGCC others(86): Show CCCCGGCCCCGCTCACCCCCGGCCCCGTTCACACCCGCCCCGCTCACACC CGCCCCGCTCACCCCCGGCCCGCTCACCCCCGGCCCCGCTCACA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	216	0.0046	-93	c.173 others(110): Show c.1737+796_1737+888delCCCCGGCCCCGTTCACACCCGCCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCGCTCACCCCCGGCCCCGCTCACA CCCGGCCCCGCTCAC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401863	ACCCCGCT others(86): Show ACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGAC CCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0211 a0001c0006t0001g0211	1	216	0.0046	-93	c.173 others(112): Show c.1738-1106_1738-1014delACCCCCGGCCCCGCTCACCCCCGGCT CCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCC GGCCCCGCTCACCCCCG		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLVAP_chr19_17346455_17382342	17349147	TTTCTTTC others(86): Show TTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	436	0.0023	-93	c.31 others(104): Show c.3122_*3214delGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGA AAGAAAGAA		PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding					2307		chr19	TogoVar
PMEPA1_chr20_57643396_57715015	57664523	GGCTCTCC others(86): Show GGCTCTCCACCCGCGGCAGCTCGCAGAATCCTCTTCGTGCCTGCATTTGT TCCGAGGAGCGCAGGGAGGCTGCTGGGGCCCATTCCCAGTCGCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp2 HG02970.hp1 others(2): Show HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0013 a0001c0005t0001 a0001c0005t0013	a0001c0005t0001g0011 a0001c0005t0001g0085 a0001c0005t0001g0187 others(1): Show a0001c0005t0001g0011 a0001c0005t0001g0085 a0001c0005t0001g0187 a0001c0005t0013g0026	5	360	0.0139	-93	c.110 others(110): Show c.110-4919_110-4827delTGCGACTGGGAATGGGCCCCAGCAGCCT CCCTGCGCTCCTCGGAACAAATGCAGGCACGAAGAGGATTCTGCGAGCTG CCGCGGGTGGAGAGC		PMEPA1	ENSG00000124225.16	transcript	ENST00000341744.8	protein_coding	1/3						chr20	TogoVar
PRKCZ_chr1_2045411_2190395	2121523	CATGGCAG others(86): Show CATGGCAGTAGTTAGGGTTATATCAGTAGTTAGGGCTATGGCTGTAGTTA GGGTGATGGTGGTAGTTAAGGTCACAGCAGTAATTAGGGTCATG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	286	0.0035	-93	c.335 others(112): Show c.335-13738_335-13646delATGGCAGTAGTTAGGGTTATATCAGT AGTTAGGGCTATGGCTGTAGTTAGGGTGATGGTGGTAGTTAAGGTCACAG CAGTAATTAGGGTCATG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122122	CGGTGGTG others(86): Show CGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTG GTGGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	286	0.0035	-93	c.335 others(112): Show c.335-13137_335-13045delTGGTGGTTAGGGTCGTGGTGGTTAGG GTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTGGT GGTGGTTAGGGTCGTGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122156	GGTGGTTA others(86): Show GGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	286	0.0035	-93	c.335 others(112): Show c.335-13100_335-13008delTAGGGTCGTGGTGGTTAGGGTTGTGG TGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCG GTGGTTAGGGTTGTGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122619	GGTGGTGG others(86): Show GGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGG CGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	286	0.0035	-93	c.335 others(112): Show c.335-12628_335-12536delTGTGGTGGTTAGGGTTGTGGTGGTTA GGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGG GTTGTGGTGGTTAGGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123460	GGTGGTTA others(86): Show GGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19030.hp1 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0165 a0001c0001t0001g0169	2	286	0.0070	-93	c.335 others(112): Show c.335-11796_335-11704delTAGGGTTGTGGTGGTTAGGGTTGTGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTG GTGGTTAGGGTTGTGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF6_chr20_63976132_64038100	63983410	AGAAGAGA others(86): Show AGAAGAGATGTTCTTGCAGGTGTTAGGACCACTGCCTTGGCATTTTCTAT TGCCCAGTCTTTTTTTTTTTTGAGACGGAATTTCGCTCTTGTCG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01358.hp2 others(5): Show HG01123.hp2 HG01167.hp1 HG01358.hp2 HG01361.hp1 HG01891.hp1 HG01934.hp2 HG02109.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 others(5): Show a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0007t0001g0238	8	294	0.0272	-93	c.240 others(108): Show c.240+240_240+332delTCTATTGCCCAGTCTTTTTTTTTTTTGAGA CGGAATTTCGCTCTTGTCGGAAGAGATGTTCTTGCAGGTGTTAGGACCAC TGCCTTGGCATTT		PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr20	TogoVar
PRR36_chr19_7863719_7879390	7870328	CGAAGGAG others(86): Show CGAAGGAGACATTGGGGGAGAGGCAGGGGGAGAGGGTGGGACCTGCAGAG GAGGCGCAGCGAGAGGGGGTGGGGCCTGTGGAGGGGGCGTGGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02896.hp2 HG02897.hp2 HG03654.hp2 HG02896.hp2 HG02897.hp2 HG03654.hp2	a0018 a0026 a0027 a0018 a0026 a0027	a0018c0036 a0026c0034 a0027c0033 a0018c0036 a0026c0034 a0027c0033	a0018c0036t0001 a0026c0034t0001 a0027c0033t0001 a0018c0036t0001 a0026c0034t0001 a0027c0033t0001	a0018c0036t0001g0029 a0026c0034t0001g0056 a0027c0033t0001g0055 a0018c0036t0001g0029 a0026c0034t0001g0056 a0027c0033t0001g0055	3	386	0.0078	-93	c.282 others(102): Show c.2823_2915delAGCCACGCCCCCTCCACAGGCCCCACCCCCTCTCGC TGCGCCTCCTCTGCAGGTCCCACCCTCTCCCCCTGCCTCTCCCCCAATGT CTCCTTC	p.Ala others(13): Show p.Ala942_Ser972del	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding	5/6	3027/4467	2823/4041	941/1346			chr19	TogoVar
PSIP1_chr9_15459066_15515970	15467933	CAACATGG others(86): Show CAACATGGAGAAACCCCGTGCCTACTAAAAATACAAAATTAGCTAGGTGT GGTGGCGTATGCCTGTAATCCCAGCTACTCTGGAGGTTGAGGCA	C C	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	300	0.0033	-93	c.142 others(110): Show c.1420+604_1420+696delTGCCTCAACCTCCAGAGTAGCTGGGATT ACAGGCATACGCCACCACACCTAGCTAATTTTGTATTTTTAGTAGGCACG GGGTTTCTCCATGTT		PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	14/15						chr9	TogoVar
PSMB10_chr16_67929506_67941850	67934906	CGGCGGTG others(86): Show CGGCGGTGACGGCTTCCACCAGCAGCCCCTGAGCAGCCTCCAGCTGCGGT GATGGGTGTGTGAGACCTAACGGGCTCTCTCTGCTGTTAACTTA	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0013 a0003c0006t0001g0013	1	304	0.0033	-93	c.559 others(103): Show c.559-51_600delTAAGTTAACAGCAGAGAGAGCCCGTTAGGTCTCAC ACACCCATCACCGCAGCTGGAGGCTGCTCAGGGGCTGCTGGTGGAAGCCG TCACCGCC	p.Leu others(13): Show p.Leu187_Gly201del	PSMB10	ENSG00000205220.12	transcript	ENST00000358514.9	protein_coding	7/8	701/977	559/822	187/273			chr16	TogoVar

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